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    Next-generation sequencing identifies pathogenic and modifier mutations in a consanguineous Chinese family with hypertrophic cardiomyopathy
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    1. ClingenBaseline 28 Oct 2026
      patient (V-1)

      Case#: V-1; male; age 28; Chinese family

      DiseaseAssertion: Hypertrophic cardiomyopathy

      FamilyInfo: V-1 is part of a large consanguineous HCM pedigree. Family segregation information was reported for the MYBPC3 variant. V-1 died suddenly at age 29

      ParentalTesting: NR

      CasePresentingHPOs: HP:0001712 HP:0005144 HP:0032092

      CaseHPOFreeText: Left ventricular hypertrophy; increased interventricular septal thickness; left ventricular outflow tract obstruction

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: Sanger sequencing and next-generation sequencing

      FunctionalAnalysis: NR

      Variant: c.3624delC, missense

      ClinVar: 42727

      CAID: CA014493

      Variant:Missense ClinVarID:42727 Case-Individual CAID:CA014493 inferred_gene_hgnc:7551 inferred_gene_source:CAID Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC5478307/