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  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance
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    1. ClingenBaseline 23 Oct 2026
      12th case

      Case#: 12th case, male, 35 years

      DiseaseAssertion: SHCM

      FamilyInfo: No

      CasePresentingHPOs: Mycardial fibrosis (HP:0001685)

      CaseHPOFreeText: 494 g heart, IVST to LVWT ratio 1.35, IVST 2.3 cm, LVWT 1.7 cm, hypertrophy of myocardial fibers, stenosis in lumens,

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: no pathological changes found in major organs besides heart

      CasePreviousTesting: N/A

      CaseGenotypingMethod: physical examination, ECG, 2D and Doppler echocardiography, histological examinations, genomic DNA extraction, DNA cloning, sequence analysis

      Variant: NM_000257.4(MYH7):c.1402T>C (p.Phe468Leu)

      ClinVar: 177821 https://www.ncbi.nlm.nih.gov/clinvar/variation/177821/

      CAID: N/A

      gnomAD: absent

      Individual CaseInfo DiseaseEntity:SHCM PreviousTesting:Partial Mutation:Somatic InheritancePattern:AutosomalDominant ClinVarID:177821 inferred_gene_hgnc:6936 inferred_gene_source:ClinVar Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6940073/