3 Matching Annotations
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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
    3
    1. ClingenBaseline 07 Nov 2026
      c.2238G > A(p.Trp746*)

      Case69

      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.-32-13T>G

      ClinVar: 4027 https://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: Adult Late Onset Pompe Disease, 1 other patient has the same genotype

      Individual CaseInfo Variant GenotypingMethod ClinVarID:370904 ClinVarID:4027 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
    2. 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
    3. ClingenBaseline 06 Nov 2026
      c.1826dupA(p.Tyr609*)

      Case9

      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.1826dupA (p.Tyr609*)

      ClinVar: 189144 https://www.ncbi.nlm.nih.gov/clinvar/variation/189144/

      gnomAD: European (Non-Finnish) 1.816e-5, Overall 8.159e-6 http://gnomad.broadinstitute.org/variant/17-78086447-T-TA

      Variant2: 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

      CaseAddInfo: Infantile Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:189144 ClinVarID:370904 inferred_gene_hgnc:4065 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5907499/