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    Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage
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    1. ClingenBaseline 21 Oct 2026

      CasePT-38: United States

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: HP:0001650, HP:0001658 (Aortic valve stenosis, Myocardial infarction)

      NotHPOsFreeText: N/A

      CaseAddInfo: Two other siblings have the same genotype

      CaseGenotypingMethod: DNA was collected from the participants using blood samples. 18 genes suspected on contributing to HCM were targeted and sequenced. The variants were then located and filtered for pathogenicity.

      Variant: NM_000257.3:c.727C>T (p.Arg243Cys)

      ClinVar: 43101 https://www.ncbi.nlm.nih.gov/clinvar/variation/43101/

      gnomAD: European (Non-Finnish) 6.482e-5, Overall 3.184e-5 https://gnomad.broadinstitute.org/variant/14-23900799-G-A

      Individual CaseInfo Variant GenotypingMethod AdditionalPreviousTesting AutosomalDominant HCM FullPreviousTesting SupplementalData ClinVarID:43101 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5679632/