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    Screening of MYH7 gene mutation sites in hypertrophic cardiomyopathy and its significance
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    1. ClingenBaseline 23 Oct 2026
      eighth case

      Case#: 8th case, male, 49 years

      DiseaseAssertion: SHCM

      FamilyInfo: No

      CasePresentingHPOs: Mycardial fibrosis (HP:0001685)

      CaseHPOFreeText: 630 g heart, IVST to LVWT ratio 1.38, IVST 2.2 cm, LVWT 1.6 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: NC_000014.9:g.23429026T>G (Thr446Pro)

      ClinVar: absent

      CAID: CA257823360

      gnomAD: absent

      InheritancePattern:AutosomalDominant Mutation:Somatic Individual CaseInfo DiseaseEntity:SHCM PreviousTesting:Partial UnregisteredVariant CAID:CA257823360 inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6940073/