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    Genetic analysis of monoallelic double MYH7 mutations responsible for familial hypertrophic cardiomyopathy
    1
    1. ClingenBaseline 22 Oct 2026
      HCM439

      Case#: HCM439, male, 15 years,

      DiseaseAssertion: HCM

      FamilyInfo: Yes, father has HCM

      CasePresentingHPOs: N/A

      CaseHPOFreeText: inverted T-waves, ST-segment depression, 22mm MLVWT, 64% LVE F, 1.21 E/A ratio, LVOT-PG 14mm

      CaseNotHPOs: N/A

      CaseNotHPOFreeText: N/A

      CasePreviousTesting: N/A

      CaseGenotypingMethod: sequencing, physical examination, ECG, 3D modeling, statistical analysis

      MultipleGeneVariants:

      (1) Variant: absent (MYH7-G407C)

      ClinVar: absent

      CAID: CA389051099

      gnomAD: absent

      (2) Variant: NM_000257.4(MYH7):c.4348G>A (p.Asp1450Asn)

      ClinVar: 43009 https://www.ncbi.nlm.nih.gov/clinvar/variation/43009/

      CAID: N/A

      gnomAD: 0.00002891 Latino/Admixed American https://gnomad.broadinstitute.org/variant/14-23886717-C-T

      Individual CaseInfo InheritancePattern:AutosomalDominant Mutation:Somatic DiseaseEntity:HCM PreviousTesting:None FamilyInfo CAID:CA389051099 ClinVarID:43009 UnregisteredVariant inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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    ncbi.nlm.nih.gov/pmc/articles/PMC6854592/