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  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    Rare variant mutations in pregnancy-associated or peripartum cardiomyopathy
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    1. ClingenBaseline 07 Nov 2026
      The proband

      Case#: Female, 20, non-Hispanic white

      DiseaseAssertion: Peripartum cardiomyopathy

      FamilyInfo: NR

      ParentalTesting: NR

      CasePresentingHPOs: HP:0034807, HP:0001640

      CaseHPOFreeText: NA

      CaseNotHPOs: NA

      CaseNotHPOFreeText: NA

      CasePreviousTesting: NR

      Genotyping Method: Sanger sequencing

      FunctionalAnalysis: demonstrated decreased calcium sensitivity, which indicated that this mutation was likely to be disease causing

      Variant: NM_001276345.2:c.505C>G

      ClinVar: 2953222

      CAID: CA344204620

      gnomAD: NR

      AdditionalInfo: PPCM was diagnosed one week postpartum.

      Variant:Missense Zygosity:NoZygosityAssertion DiseaseEntity:Other Gene:TNNT2 HGNC:11949 CAID:CA344204620 ClinVarID:2953222 FunctionalAnalysis inferred_gene_hgnc:11949 inferred_gene_source:hgnc_tag Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC2900861/