3 Matching Annotations
  1. Oct 2026
  2. www.sciencedirect.com www.sciencedirect.com
    Generation of induced pluripotent stem cells (iPSCs) from a hypertrophic cardiomyopathy patient with the pathogenic variant p.Val698Ala in beta-myosin heavy chain (MYH7) gene
    1
    1. ClingenBaseline 23 Oct 2026
      Peripheral blood mononuclear cells (PBMCs) were obtained from a 43-year-old male with familial HCM

      Case: Male, 43yo

      DiseaseAssertion: HCM

      FamilyInfo: Variant (p.Val698Ala) segregates with HCM in 5 family members and 2 others are unaffected carriers

      CaseHPOFreeText: left ventricular wall thickness = 28 mm

      CasePreviousTesting: n/a

      CaseGenotypingMethod: n/a

      Variant: NM_000257.3(MYH7):c.2093T>C (p.Val698Ala) heterozygous

      ClinVar: 42878, https://www.ncbi.nlm.nih.gov/clinvar/variation/42878/

      gnomAD: n/a

      Individual CaseInfo HCM FamilyInfo NoInheritanceAssertion NoPreviousTesting ClinVarID:42878 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    sciencedirect.com/science/article/pii/S1873506117300363
  3. www.ahajournals.org www.ahajournals.org
    Multiple Gene Variants in Hypertrophic Cardiomyopathy in the Era of Next-Generation Sequencing | Circulation: Cardiovascular Genetics
    1
    1. ClingenBaseline 22 Oct 2026

      CaseMYH7-29: Australia

      DiseaseAssertion: Hypertrophic Cardiomyopathy

      FamilyInfo: N/A

      CasePresentingHPOs: HP:0001639 (Hypertrophic cardiomyopathy)

      HPOsFreeText: N/A

      CaseNotHPOs: N/A

      NotHPOsFreeText: N/A

      CaseAddInfo: N/A

      CasePreviousTesting: See Table 1

      CaseGenotypingMethod: DNA was isolated from peripheral blood. Most participants underwent testing from the Illumina Cardiomyopathy Sequencing Panel, which includes 46 cardiomyopathy related genes. For others, whole exome sequencing or Sanger squencing was used. After the results were returned, variants were filtered for pathogenicity and rarity.

      Variant: NM_000257.3:c.2093T>C (p.Val698Ala)

      ClinVar: 42878 https://www.ncbi.nlm.nih.gov/clinvar/variation/42878/

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod FullPreviousTesting AdditionalPreviousTesting NoInheritanceAssertion HCM SupplementalData ClinVarID:42878 inferred_gene_hgnc:7577 inferred_gene_source:RefSeq Cardiomyopathy Annotation
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    ahajournals.org/doi/full/10.1161/CIRCGENETICS.116.001666
  4. www.ahajournals.org www.ahajournals.org
    Burden of Recurrent and Ancestral Mutations in Families With Hypertrophic Cardiomyopathy | Circulation: Cardiovascular Genetics
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    ahajournals.org/doi/full/10.1161/CIRCGENETICS.116.001671