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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
    1
    1. ClingenBaseline 07 Nov 2026
      c.2238G > A(p.Trp746*)

      Case35

      HPOsFreeText: See Group Phenotypes

      CasePreviousTesting: Sanger sequencing

      CaseMethod1: Sanger sequencing and PCR Amplification

      CaseMethod2: Whole Exome Sequencing (WES)

      CaseGenotypingMethod: Patients were previously confirmed with Pompe disease by Sanger sequencing to capture the pathogenic variants. The process was repeated as part of the study taking care to amplify the coding regions and exon/intron boundaries to compare with the WES results afterwards.

      Variant1: NM_000152.4:c.2238G>A (p.Trp746*)

      ClinVar: 370904 https://www.ncbi.nlm.nih.gov/clinvar/variation/370904/

      gnomAD: African 4.011e-5, Overall 1.063e-5 http://gnomad.broadinstitute.org/variant/17-78090815-G-A

      Variant2: NM_000152.4:c.1843G>A (p.Gly615Arg)

      ClinVar: 188786 https://www.ncbi.nlm.nih.gov/clinvar/variation/188786/

      gnomAD: East Asian 2.223e-4, Overall 1.640e-5 http://gnomad.broadinstitute.org/variant/17-78086465-G-A

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:370904 ClinVarID:188786 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5907499/
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    Mass Spectrometry but not Fluorimetry Distinguishes Affected and Pseudodeficienies in Newborn Screening for Pompe Disease
    2
    1. ClingenBaseline 07 Nov 2026

      CaseOPOPD-52: Male, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.05 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.1843G>A (p.Gly615Arg)

      ClinVar: 188786 https://www.ncbi.nlm.nih.gov/clinvar/variation/188786/

      gnomAD: East Asian 2.223e-4, Overall 1.640e-5 http://gnomad.broadinstitute.org/variant/17-78086465-G-A

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

      Individual CaseInfo Variant GenotypingMethod ClinVarID:92467 ClinVarID:188786 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. ClingenBaseline 06 Nov 2026

      CaseOPOPD-53: Female, Taiwan, Birth diagnosis

      HPOsFreeText: GAA (MS/MS) enzyme activity at 1.23 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.1843G>A (p.Gly615Arg)

      ClinVar: 188786 https://www.ncbi.nlm.nih.gov/clinvar/variation/188786/

      gnomAD: East Asian 2.223e-4, Overall 1.640e-5 http://gnomad.broadinstitute.org/variant/17-78086465-G-A

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

      Individual CaseInfo VariantEvidence CaseGenotypingMethod ClinVarID:188786 ClinVarID:92467 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5524447/