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    Hypertrophic cardiomyopathy clinical phenotype is independent of gene mutation and mutation dosage
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    1. ClingenBaseline 24 Oct 2026

      CasePT-41: United States

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

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

      NotHPOsFreeText: N/A

      CaseAddInfo:

      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.3749G>C (p.Arg1250Pro)

      ClinVar: 181232 https://www.ncbi.nlm.nih.gov/clinvar/variation/181232/

      gnomAD: East Asian 5.437e-5, Overall 7.958e-6 https://gnomad.broadinstitute.org/variant/14-23888796-C-G

      Individual CaseInfo Variant GenotypingMethod AdditionalPreviousTesting AutosomalDominant HCM FullPreviousTesting SupplementalData ClinVarID:181232 inferred_gene_hgnc:6547 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC5679632/