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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Identification of a novel likely pathogenic TPM1 variant linked to hypertrophic cardiomyopathy in a family with sudden cardiac death
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    1. ClingenBaseline 11 Nov 2026
      5‐year‐old boy

      Case#: Five-year-old Iranian boy

      DiseaseAssertion: asymmetric septal hypertrophy and mild LV hypertrophy

      FamilyInfo: History HCM and SCD in the family

      ParentalTesting: both parents and two siblings had the same test done

      CasePresentingHPOs: HP:0003690 limb weakness

      CaseHPOFreeText:

      CaseNotHPOs:

      CaseNotHPOFreeText:

      CasePreviousTesting: echocardiography or cardiac magnetic resonance (CMR) imaging, electrocardiography (ECG), and thorough physical examination

      Genotyping Method: Whole‐exome sequencing (WES)

      FunctionalAnalysis:

      Variant: c.761A>G:p.D254G (NM_001018005.2)

      ClinVar:not found

      CAID:CA392724249

      gnomAD:not found

      AdditionalInfo:

      Gene:TPM1 HGNC:12010 InheritancePattern:AutosomalDominant DiseaseEntity:HCM Variant:Missense Zygosity:Heterozygous “CAID:CA392724249” FamilyInfo inferred_gene_hgnc:12010 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC11424302/