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    Sarcomere gene variants did not improve cardiac function in pediatric patients with dilated cardiomyopathy from Japanese cohorts
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    1. ClingenBaseline 10 Nov 2026
      Figure 3 and Table S1 present the distribution of pathogenic variants.

      Case#: Patient 48. Age, sex, and ancestry NR.

      DiseaseAssertion: Dilated cardiomyopathy.

      FamilyInfo: NR

      ParentalTesting: NR

      CasePresentingHPOs: HP:0001644

      CaseHPOFreeText: NR

      CaseNotHPOs: NR

      CaseNotHPOFreeText: NR

      CasePreviousTesting: NR

      Genotyping Method: The authors used an Ion PGM panel that tested 203 heart related genes.

      FunctionalAnalysis: NR

      Variant: NM_001018020.1:c.8C>T (p.Ala3Val).

      ClinVar: 2107684

      CAID: CA392717929

      gnomAD: No record found in gnomAD v4.1.

      AdditionalInfo: PMID 39681577. Patient 48 and the TPM1 variant are listed in Supplementary Table S1. The authors called it a variant of uncertain significance.

      CaseInfo Gene:TPM1 HGNC:12010 InheritancePattern:NoInheritanceAssertion DiseaseEntity:DCM Variant:Missense Zygosity:NoZygosityAssertion SupplementalData ClinVarID:2107684 inferred_gene_hgnc:12010 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC11649763/