46 Matching Annotations
  1. Oct 2026
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
    36
    1. ClingenBaseline 25 Oct 2026

      CaseOPOPD-50: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.68 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1634C>T (p.Pro545Leu)

      ClinVar: 4032 https://www.ncbi.nlm.nih.gov/clinvar/variation/4032/

      gnomAD: European (Finnish) 1.199e-4, Overall 1.774e-5 http://gnomad.broadinstitute.org/variant/17-78084822-C-T

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4032 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 25 Oct 2026

      CaseOPOPD-40: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.99 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.872T>C (p.Leu291Pro)

      CAID: CA401363854 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.872T%3EC

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 2 others have the same genotypes

      Individual CaseInfo Variant GenotypingMethod CA401363854 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    3. ClingenBaseline 25 Oct 2026

      CaseLP-5: Male, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 1.08, MS/MS ennzyme activity at 0.46

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.752C>T (p.Ser251Leu)

      ClinVar: 325781 https://www.ncbi.nlm.nih.gov/clinvar/variation/325781/

      gnomAD: East Asian 2.760e-3, Overall 3.540e-4 http://gnomad.broadinstitute.org/variant/17-78081415-C-T

      Variant2: NM_000152.4:c.761C>T (p.Ser254Leu)

      ClinVar: 325782 https://www.ncbi.nlm.nih.gov/clinvar/variation/325782/

      gnomAD: East Asian 2.759e-3, Overall 1.947e-4 http://gnomad.broadinstitute.org/variant/17-78081424-C-T

      Variant3: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant4: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: Suspected Late Onset Pompe Disease, Nomenclature indicates Variants 1 and 2 are in cis and Variants 3 and 4 are also in cis

      Individual CaseInfo GenotypingMethod Variant ClinVarID:325781 ClinVarID:325782 ClinVarID:92467 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    4. ClingenBaseline 25 Oct 2026

      CasePDC-3: Female, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 1.26, MS/MS ennzyme activity at 1.21

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.752C>T (p.Ser251Leu)

      ClinVar: 325781 https://www.ncbi.nlm.nih.gov/clinvar/variation/325781/

      gnomAD: East Asian 2.760e-3, Overall 3.540e-4 http://gnomad.broadinstitute.org/variant/17-78081415-C-T

      Variant2: NM_000152.4:c.761C>T (p.Ser254Leu)

      ClinVar: 325782 https://www.ncbi.nlm.nih.gov/clinvar/variation/325782/

      gnomAD: East Asian 2.759e-3, Overall 1.947e-4 http://gnomad.broadinstitute.org/variant/17-78081424-C-T

      Variant3: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Patient is either a carrier or has a pseudodeficency allele, Nomenclature indicates that Variants 1 and 2 are in cis, PDC-4 and 5 have the exact same allele combination

      Individual CaseInfo Variant GenotypingMethod ClinVarID:325781 ClinVarID:325782 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    5. ClingenBaseline 24 Oct 2026

      CaseIP-1: Female, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.45, GAA (MS/MS) enzyme activity at 0.01 umol/hr/L, Serum CK at 237 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.424_440del17 (p.Ser142Leufs*29)

      CAID: CA658795228 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.424_440del17

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant3: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates Variant 2 and 3 are in cis

      Individual CaseInfo Variant GenotypingMethod CA658795228 ClinVarID:92467 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    6. ClingenBaseline 24 Oct 2026

      CaseOPOPD-57: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.60 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1958C>A (p.Thr653Asn)

      CAID: CA8815557 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1958C%3EA

      gnomAD: East Asian 2.548e-4, Overall 1.825e-5 http://gnomad.broadinstitute.org/variant/17-78086744-C-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 3 other people have this genotype

      Individual CaseInfo Variant GenotypingMethod CA8815557 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    7. ClingenBaseline 24 Oct 2026

      CaseOPOPD-12: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.68 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.752C>T (p.Ser251Leu)

      ClinVar: 325781 https://www.ncbi.nlm.nih.gov/clinvar/variation/325781/

      gnomAD: East Asian 2.760e-3, Overall 3.540e-4 http://gnomad.broadinstitute.org/variant/17-78081415-C-T

      Variant2: NM_000152.4:c.761C>T (p.Ser254Leu)

      ClinVar: 325782 https://www.ncbi.nlm.nih.gov/clinvar/variation/325782/

      gnomAD: East Asian 2.759e-3, Overall 1.947e-4 http://gnomad.broadinstitute.org/variant/17-78081424-C-T

      Variant3: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, Nomenclature shows that Variants 1 and 2 are in cis, 25 other patients share the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:325781 ClinVarID:325782 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    8. ClingenBaseline 24 Oct 2026

      CasePDC-2: Male, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.84, MS/MS ennzyme activity at 1.34

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.3:c.693-5C>T

      CAID: CA8814990 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.693-5C%3ET

      gnomAD: East Asian 3.516e-4, Overall 3.900e-5 http://gnomad.broadinstitute.org/variant/17-78081351-C-T

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Patient is either a carrier or has a pseudodeficency allele

      Individual CaseInfo Variant GenotypingMethod CA8814990 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    9. ClingenBaseline 24 Oct 2026

      CaseOPOPD-71: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.99 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2431dupC (p.Leu811Profs*?)

      CAID: CA658795289 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2431dupC

      gnomAD: Not in gnomAD

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod CA658795289 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    10. ClingenBaseline 24 Oct 2026

      CaseOPTPD-77: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.61 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2014C>T (p.Arg672Trp)

      ClinVar: 188773 https://www.ncbi.nlm.nih.gov/clinvar/variation/188773/

      gnomAD: South Asian 3.355e-5, Overall 8.290e-6 http://gnomad.broadinstitute.org/variant/17-78086800-C-T

      CaseAddInfo: One Pompe Mutation allele and Two Pseudodeficency Mutation alleles, Nomenclature indicates patient is homozygous for Variant 1 and Variant 2 is in cis with one copy

      Individual CaseInfo Variant GenotypingMethod ClinVarID:188773 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    11. ClingenBaseline 24 Oct 2026

      CaseOPOPD-9: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.68 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.671G>A (p.Arg224Gln)

      ClinVar: CA8814958 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.671G%3EA

      gnomAD: African 8.060e-5, Overall 2.549e-5 http://gnomad.broadinstitute.org/variant/17-78079672-G-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation and One Pseudodeficency Mutation

      Individual CaseInfo Variant GenotypingMethod CA8814958 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    12. ClingenBaseline 23 Oct 2026

      CaseIP2-9: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.09 umol/hr/L, Serum CK at 483 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant3: NM_000152.4:c.2274dup (p.Gly759Argfs*?)

      CAID: CA658795280 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2273_2274insC

      gnomAD: Not in gnomAD

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates that Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 CA658795280 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    13. ClingenBaseline 23 Oct 2026

      CaseIP-4: Male, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.45, MS/MS ennzyme activity at 0.09

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant in literature as c.2274insC, however investigation revealed it was primarily a duplication.

      Variant3: NM_000152.4:c.2274dup (p.Gly759Argfs*?)

      CAID: CA658795280 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2273dupC

      gnomAD: Not in gnomAD

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates Variant 1 and 2 are in cis

      Individual CaseInfo GenotypingMethod Variant ClinVarID:92467 ClinVarID:4029 CA658795280 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    14. ClingenBaseline 23 Oct 2026

      CaseOPOPD-1: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.41 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.424_440del (p.Ser142Leufs*29)

      CAID: CA658795228 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.424_440del

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation and One Pseudodeficency Mutation, 2 others have the same genotype

      Individual CaseInfo Variant GenotypingMethod CA658795228 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    15. ClingenBaseline 23 Oct 2026

      CaseOPOPD-51: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.03 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1822C>T (p.Arg608Ter)

      CAID: CA8815488 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1822C%3ET

      gnomAD: East Asian 5.103e-5, Overall 1.806e-5 http://gnomad.broadinstitute.org/variant/17-78086444-C-T

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 CA8815488 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    16. ClingenBaseline 23 Oct 2026

      CaseOPTPD-4: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.72 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.752C>T (p.Ser251Leu)

      ClinVar: 325781 https://www.ncbi.nlm.nih.gov/clinvar/variation/325781/

      gnomAD: East Asian 2.760e-3, Overall 3.540e-4 http://gnomad.broadinstitute.org/variant/17-78081415-C-T

      Variant3: NM_000152.4:c.761C>T (p.Ser254Leu)

      ClinVar: 325782 https://www.ncbi.nlm.nih.gov/clinvar/variation/325782/

      gnomAD: East Asian 2.759e-3, Overall 1.947e-4 http://gnomad.broadinstitute.org/variant/17-78081424-C-T

      CaseAddInfo: One Pompe Mutation allele and Two Pseudodeficency Mutation alleles, Nomenclature indicates patient is homozygous for Variant 1 and Variants 2 and 3 are in cis with each other and only one copy of 1

      Individual CaseInfo Variant GenotypingMethod ClinVarID:325782 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    17. ClingenBaseline 23 Oct 2026

      CaseIP-3: Female, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.42, MS/MS ennzyme activity at 0.10

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates Variant 1 and 2 are in cis and that the patient is homozygous for this allele

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    18. ClingenBaseline 23 Oct 2026

      CaseOPOPD-48: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.02 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1508_1510del (p.Val503del)

      CAID: CA627699576 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1508_1510del

      gnomAD: East Asian 5.438e-5, Overall 3.980e-6 http://gnomad.broadinstitute.org/variant/17-78084592-ATGG-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 1 other has the same genotype

      Individual CaseInfo Variant GenotypingMethod CA627699576 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    19. ClingenBaseline 23 Oct 2026

      CaseOPOPD-53: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.80 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 3 other people have this genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4029 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    20. ClingenBaseline 22 Oct 2026

      CaseOPOPD-75: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.83 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481 https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD: East Asian 1.631e-4, Overall 1.194e-5 http://gnomad.broadinstitute.org/variant/17-78093082-CTG-C

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 2 other patients have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:371481 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    21. ClingenBaseline 22 Oct 2026

      CaseLP2-11: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.46 umol/hr/L, Serum CK at 86 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.752C>T (p.Ser251Leu)

      ClinVar: 325781 https://www.ncbi.nlm.nih.gov/clinvar/variation/325781/

      gnomAD: East Asian 2.760e-3, Overall 3.540e-4 http://gnomad.broadinstitute.org/variant/17-78081415-C-T

      Variant2: NM_000152.4:c.761C>T (p.Ser254Leu)

      ClinVar: 325782 https://www.ncbi.nlm.nih.gov/clinvar/variation/325782/

      gnomAD: East Asian 2.759e-3, Overall 1.947e-4 http://gnomad.broadinstitute.org/variant/17-78081424-C-T

      Variant3: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant4: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Late Onset Pompe Disease, Nomenclature indicates Variants 1 and 2 and Variants 3 and 4 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 ClinVarID:325781 ClinVarID:325782 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    22. ClingenBaseline 22 Oct 2026

      CaseOPOPD-70: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.47 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2238G>T (p.Trp746Cys)

      CAID: CA401324771 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2238G%3ET

      gnomAD: Not in gnomAD

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 CA401324771 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    23. ClingenBaseline 22 Oct 2026

      CasePDC-9: Female, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 0.98, MS/MS ennzyme activity at 0.83

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2815_2816delGT (p.Val939Leufs)

      ClinVar: 371481 https://www.ncbi.nlm.nih.gov/clinvar/variation/371481/

      gnomAD:East Asian 1.631e-4, Overall 1.194e-5 http://gnomad.broadinstitute.org/variant/17-78093082-CTG-C

      CaseAddInfo: Patient is either a carrier or has a pseudodeficency allele

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:371481 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    24. ClingenBaseline 22 Oct 2026

      CaseOPTPD-6: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.50 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      CaseAddInfo: One Pompe Mutation allele and Two Pseudodeficency Mutation alleles, Nomenclature indicates patient is homozygous for Variant 1 and Variant 2 is in cis with one copy, 70 other patients have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    25. ClingenBaseline 22 Oct 2026

      CaseOPOPD-11: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.98 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.701C>T (p.Thr234Met)

      ClinVar: CA8814994 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.701C%3ET

      gnomAD: South Asian 3.266e-5, Overall 1.196e-5 http://gnomad.broadinstitute.org/variant/17-78081364-C-T

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation and One Pseudodeficency Mutation

      Individual CaseInfo Variant GenotypingMethod CA8814994 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    26. ClingenBaseline 22 Oct 2026

      CaseIP2-2: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.09 umol/hr/L, Serum CK at 458 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.872T>C (p.Leu291Pro)

      CAID: CA401363854 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.872T%3EC

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant3: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates Variant 1 and 2 are in trans, also that Variant 3 is in cis with only one of them

      Individual CaseInfo Variant GenotypingMethod CA401363854 ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    27. ClingenBaseline 22 Oct 2026

      CasePDC-1: Female, Taiwan, Birth diagnosis

      HPOsFreeText: 4MU enzyme activity at 1.15, MS/MS ennzyme activity at 1.2

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Patient is either a carrier or has a pseudodeficency allele, Second allele is wildtype

      Individual CaseInfo GenotypingMethod Variant ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    28. ClingenBaseline 22 Oct 2026

      CaseOPOPD-5: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.97 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.503G>C (p.Arg168Pro)

      CAID: CA401361673 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.503G%3EC

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation and One Pseudodeficency Mutation

      Individual CaseInfo Variant GenotypingMethod CA401361673 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    29. ClingenBaseline 21 Oct 2026

      CaseIP2-11: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.15 umol/hr/L, Serum CK at 662 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant3: NM_000152.4:c.2303C>T (p.Pro768Leu)

      CAID: CA401324900 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.2303C%3ET

      gnomAD: Not in gnomAD

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates that Variant 1 and 3 are in trans and that 2 is in cis with one of them

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 CA401324900 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    30. ClingenBaseline 21 Oct 2026

      CaseOPOPD-47: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.83 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1461C>G (p.Phe487Leu)

      CAID: CA401366857 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1461C%3EG

      gnomAD: Not in gnomAD

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod CA401366857 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    31. ClingenBaseline 21 Oct 2026

      CaseOPOPD-52: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.13 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.1850T>G (p.Val617Gly)

      CAID: CA401369628 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.1850T%3EG

      gnomAD: Not in gnomAD

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele

      Individual CaseInfo Variant GenotypingMethod CA401369628 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    32. ClingenBaseline 21 Oct 2026

      CaseOPM-2: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.34 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.693-5C>T

      CAID: CA8814990 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.693-5C%3ET

      gnomAD: East Asian 3.516e-4, Overall 3.900e-5 http://gnomad.broadinstitute.org/variant/17-78081351-C-T

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation, Nomenclature indicates Variants 1 and 2 are in cis and the other allele is Wildtype

      Individual CaseInfo Variant GenotypingMethod CA8814990 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    33. ClingenBaseline 21 Oct 2026

      CaseOPOPD-10: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.34 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.693-5C>T

      ClinVar: CA8814990 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.4%3Ac.693-5C%3ET

      gnomAD: East Asian 3.516e-4, Overall 3.900e-5 http://gnomad.broadinstitute.org/variant/17-78081351-C-T

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation and One Pseudodeficency Mutation

      Individual CaseInfo Variant GenotypingMethod CA8814990 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    34. ClingenBaseline 21 Oct 2026

      CaseOPOPD-67: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.93 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2236T>G (p.Trp746Gly)

      ClinVar: 556431 https://www.ncbi.nlm.nih.gov/clinvar/variation/556431/

      gnomAD: East Asian 6.410e-4, Overall 3.186e-5 http://gnomad.broadinstitute.org/variant/17-78090813-T-G

      CaseAddInfo: One Pompe Mutation allele and One Pseudodeficency Mutation allele, 2 other patients have this genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:556431 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    35. ClingenBaseline 21 Oct 2026

      CaseOPM-1: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.97 umol/hr/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: One Pompe Mutation, Nomenclature indicates Variants 1 and 2 are in cis and the other allele is Wildtype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    36. ClingenBaseline 21 Oct 2026

      CaseIP2-6: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 0.02 umol/hr/L, Serum CK at 709 U/L

      GenotypingMethod: GAA Gene Sequencing and PCR Amplification

      Variant1: NM_000152.4:c.1935C>A (p.Asp645Glu)

      ClinVar: 4029 https://www.ncbi.nlm.nih.gov/clinvar/variation/4029/

      gnomAD: East Asian 1.729e-3, Overall 1.240e-4 http://gnomad.broadinstitute.org/variant/17-78086721-C-A

      Variant2: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      CaseAddInfo: Infantile Onset Pompe Disease, Nomenclature indicates that Variant 1 and 2 are in cis and the patient is homozygous for this allele, 2 more patients also have the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:4029 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    Visit annotations in context

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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/
  3. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Liquid Chromatography-Tandem Mass Spectrometry Assay of Leukocyte Acid α-Glucosidase for Post-Newborn Screening Evaluation of Pompe Disease
    9
    1. ClingenBaseline 25 Oct 2026
      PD/Pathogenic-1

      CasePD/Pathogenic-1: 5 weeks diagnosis

      HPOsFreeText: GAA activity 16.6 (nmol · h−1 · mg−1), Mean percentage of normal 23.2%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.752C>T (p.Ser251Leu)

      ClinVar: 325781 https://www.ncbi.nlm.nih.gov/clinvar/variation/325781/

      gnomAD: East Asian 2.760e-3, Overall 3.540e-4 http://gnomad.broadinstitute.org/variant/17-78081415-C-T

      Variant4: NM_000152.4:c.761C>T (p.Ser254Leu)

      ClinVar: 325782 https://www.ncbi.nlm.nih.gov/clinvar/variation/325782/

      gnomAD: East Asian 2.759e-3, Overall 1.947e-4 http://gnomad.broadinstitute.org/variant/17-78081424-C-T

      CaseAddInfo: Patient has one pseudodeficency allele and one pathogenic allele, Nomenclature claims Variant 1 and 2 are in cis, Nomenclature claims Variant 3 and 4 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 ClinVarID:325781 ClinVarID:325782 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    2. ClingenBaseline 24 Oct 2026
      PD/Pathogenic-5

      CasePD/Pathogenic-5: 4 weeks diagnosis

      HPOsFreeText: GAA activity 6.5 (nmol · h−1 · mg−1), Mean percentage of normal 9.1%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.-32-13T>G

      ClinVar: 4027 http://www.ncbi.nlm.nih.gov/clinvar/variation/4027

      gnomAD: Ashkenazi Jewish 5.541e-3, Overall 3.401e-3 http://gnomad.broadinstitute.org/variant/17-78078341-T-G

      CaseAddInfo: Patient has one pseudodeficency allele and one pathogenic allele, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    3. ClingenBaseline 23 Oct 2026
      PD/VOUS-6

      CasePD/VOUS-6: 2 weeks diagnosis

      HPOsFreeText: GAA activity 8.26 (nmol · h−1 · mg−1), Mean percentage of normal 11.6%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.2302C>T (p.Pro768Ser)

      CAID: CA401324897 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3:c.2302C%3ET

      gnomAD: Not in gnomAD

      CaseAddInfo: Patient has one pseudodeficency allele and one allele of uncertain significance, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 CA401324897 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    4. ClingenBaseline 23 Oct 2026
      PD/Pathogenic-7

      CasePD/Pathogenic-7: 2 weeks diagnosis

      HPOsFreeText: GAA activity 3.0 (nmol · h−1 · mg−1), Mean percentage of normal 4.2%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.2167G>A (p.Val723Met)

      CAID: CA8815635 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3:c.2167G%3EA

      gnomAD: East Asian 6.213e-5, Overall 9.462e-6 http://gnomad.broadinstitute.org/variant/17-78087143-G-A

      CaseAddInfo: Patient has one pseudodeficency allele and one pathogenic allele, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 CA8815635 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    5. ClingenBaseline 23 Oct 2026
      PD/Pathogenic-4

      CasePD/Pathogenic-4: 2 weeks diagnosis

      HPOsFreeText: GAA activity 5.0 (nmol · h−1 · mg−1), Mean percentage of normal 7.0%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.752C>T (p.Ser251Leu)

      ClinVar: 325781 https://www.ncbi.nlm.nih.gov/clinvar/variation/325781/

      gnomAD: East Asian 2.760e-3, Overall 3.540e-4 http://gnomad.broadinstitute.org/variant/17-78081415-C-T

      Variant4: NM_000152.4:c.761C>T (p.Ser254Leu)

      ClinVar: 325782 https://www.ncbi.nlm.nih.gov/clinvar/variation/325782/

      gnomAD: East Asian 2.759e-3, Overall 1.947e-4 http://gnomad.broadinstitute.org/variant/17-78081424-C-T

      CaseAddInfo: Patient has one pseudodeficency allele and one pathogenic allele, Nomenclature claims Variant 1 and 2 are in cis, Nomenclature claims Variant 3 and 4 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 ClinVarID:325781 ClinVarID:325782 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    6. ClingenBaseline 23 Oct 2026
      PD/Pathogenic-3

      CasePD/Pathogenic-3: 2 weeks diagnosis

      HPOsFreeText: GAA activity 4.9 (nmol · h−1 · mg−1), Mean percentage of normal 6.9%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.752C>T (p.Ser251Leu)

      ClinVar: 325781 https://www.ncbi.nlm.nih.gov/clinvar/variation/325781/

      gnomAD: East Asian 2.760e-3, Overall 3.540e-4 http://gnomad.broadinstitute.org/variant/17-78081415-C-T

      Variant4: NM_000152.4:c.761C>T (p.Ser254Leu)

      ClinVar: 325782 https://www.ncbi.nlm.nih.gov/clinvar/variation/325782/

      gnomAD: East Asian 2.759e-3, Overall 1.947e-4 http://gnomad.broadinstitute.org/variant/17-78081424-C-T

      CaseAddInfo: Patient has one pseudodeficency allele and one pathogenic allele, Nomenclature claims Variant 1 and 2 are in cis, Nomenclature claims Variant 3 and 4 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 ClinVarID:325781 ClinVarID:325782 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    7. ClingenBaseline 22 Oct 2026
      PD/VOUS-5

      CasePD/VOUS-5: 1.7 years diagnosis

      HPOsFreeText: GAA activity 9.16 (nmol · h−1 · mg−1), Mean percentage of normal 12.9%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Variant3: NM_000152.4:c.1424C>T (p.Pro475Leu)

      CAID: CA8815314 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000152.3:c.1424C%3ET

      gnomAD: South Asian 1.307e-4, Overall 2.009e-5 http://gnomad.broadinstitute.org/variant/17-78083841-C-T

      CaseAddInfo: Patient has one pseudodeficency allele and one allele of uncertain significance, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 CA8815314 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
    8. ClingenBaseline 22 Oct 2026
      PD/VOUS-7

      CasePD/VOUS-7: 3 weeks diagnosis

      HPOsFreeText: GAA activity 3.43 (nmol · h−1 · mg−1), Mean percentage of normal 4.8%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Multiple interpretations of p.G615R possible

      Variant3: NP_000143.2:p.G615R

      CAID: PA113309 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NP_000143.2%3Ap.G615R

      gnomAD: N/A

      CaseAddInfo: Patient has one pseudodeficency allele and one allele of uncertain significance, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 PA113309 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    9. ClingenBaseline 21 Oct 2026
      PD/Pathogenic-6

      CasePD/Pathogenic-6: 4 weeks diagnosis

      HPOsFreeText: GAA activity 8.8 (nmol · h−1 · mg−1), Mean percentage of normal 12.3%

      GenotypingMethod: Newborn Screening Panels

      Variant1: NM_000152.4:c.1726G>A (p.Gly576Ser)

      ClinVar: 92467 https://www.ncbi.nlm.nih.gov/clinvar/variation/92467/

      gnomAD: East Asian 0.1427, Overall 0.01700 http://gnomad.broadinstitute.org/variant/17-78085871-G-A

      Variant2: NM_000152.4:c.2065G>A (p.Glu689Lys)

      ClinVar: 4030 https://www.ncbi.nlm.nih.gov/clinvar/variation/4030/

      gnomAD: East Asian 0.2355, Overall 0.05524 http://gnomad.broadinstitute.org/variant/17-78087041-G-A

      Chromosomal code not provided

      Variant3: NP_000143.2:p.N87Tfs*55

      ClinVar: N/A

      gnomAD: N/A

      CaseAddInfo: Patient has one pseudodeficency allele and one pathogenic allele, Nomenclature claims Variant 1 and 2 are in cis

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:4030 inferred_gene_hgnc:4065 inferred_gene_source:RefSeq GAA variant
    Visit annotations in context

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    ncbi.nlm.nih.gov/pmc/articles/PMC5413112/
  4. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Selective screening for lysosomal storage disorders in a large cohort of minorities of African descent shows high prevalence rates and novel variants
    1
    1. ClingenBaseline 23 Oct 2026
      1

      Case#: Patient 1

      DiseaseAssertion: Pompe Disease

      FamilyInfo: None given

      CasePresentingHPOs: None

      CaseHPOFreeText: None

      CaseNotHPOs: None

      CaseNotHPOFreeText: None

      CasePreviousTesting: Single gene sequencing with Ion Torrent Persional Genome Machine

      Glucosidase activity: 0.0 nmol 5MU/hr/mL

      Variant 1: NM_000152.5:c.2065G>A

      Variant 1 ClinVarID: 4030

      Variant 1 CAid: CA116612

      Variant 2: NM_000152.5:c.1726G>A

      Variant 2 ClinVarID: 92467

      Variant 2 CAid: CA145760

      Variant 2: NM_000152.5:c.596A>G

      Variant 3 ClinVarID: 92486

      Variant 3 CAid: CA145785

      Variant 2: NM_000152.5:c.668G>A

      Variant 4 ClinVarID: 92488

      Variant 4 CAid: CA145791

      ParentalGenotype: Not provided

      CaseInfo ClinVarID:4030 CAid:CA116612 ClinVarID:92467 CAid:CA145760 ClinVarID:92488 CAid:CA145791 inferred_gene_hgnc:4065 inferred_gene_source:CAID GAA variant
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    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC8100401/