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    Sensitivity of whole exome sequencing in detecting infantile- and late-onset Pompe disease
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    1. ClingenBaseline 21 Oct 2026
      c.1796C > A(p.Ser599Tyr)

      Case56

      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.1796C>A (p.Ser599Tyr)

      ClinVar: 551558 https://www.ncbi.nlm.nih.gov/clinvar/variation/551558/

      gnomAD: European (Non-Finnish) 2.683e-5, Overall 1.207e-5 http://gnomad.broadinstitute.org/variant/17-78086418-C-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: Juvenile Late Onset Pompe Disease

      Individual CaseInfo Variant GenotypingMethod ClinVarID:551558 ClinVarID:4027 inferred_gene_hgnc:3519 inferred_gene_source:ClinVar GAA variant
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    ncbi.nlm.nih.gov/pmc/articles/PMC5907499/