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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Functional annotation of TNNT2 variants of uncertain significance with genome-edited cardiomyocytes
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    1. ClingenBaseline 31 Oct 2026
      A 65-year-old woman with severe hypertrophic cardiomyopathy underwent gene panel testing that identified a single variant, TNNT2 E251D

      Case#:A 65-year-old woman with severe hypertrophic cardiomyopathy

      DiseaseAssertion:Severe hypertrophic cardiomyopathy

      FamilyInfo:no information reported

      ParentalTesting:no parental testing reported

      CasePresentingHPOs:HP:0001639

      CaseHPOFreeText: gene panel testing that identified a single variant

      CaseNotHPOs: not found

      CaseNotHPOFreeText: not found

      CasePreviousTesting: gene panel testing that identified a single variant

      Genotyping Method:clinical gene panel testing

      FunctionalAnalysis: rapid insertion of TNNT2 gene variants into induced pluripotent stem cell-differentiated cardiomyocytes (iPSC-CMs) for functional annotation of the variants for (E251D)(Figure B)

      Variant:c.753G>T (p.Glu251Asp)

      ClinVar:not found

      CAID:CA090003

      gnomAD:not found

      AdditionalInfo:not reported

      Gene:TNNT2 HGNC ID:11949 InheritancePattern:NoInheritanceAssertion DiseaseEntity:HCM Variant:Missense Zygosity:NoZygosityAssertion CAID:CA090003 inferred_gene_hgnc:11949 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC6309910/