3 Matching Annotations
  1. Last 7 days
  2. pmc.ncbi.nlm.nih.gov pmc.ncbi.nlm.nih.gov
    A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort
    3
    1. ClingenBaseline 09 Nov 2026
      EO30 yes TNNI3 6 c.431T>A Leu144Gln MISSENSE

      Case#: E030

      DiseaseAssertion: Early onset hypertrophic cardiomyopathy

      FamilyInfo: Familiarity case reported as "yes"

      ParentalTesting: Not reported

      CasePresentingHPOs: HP:0001639

      CaseHPOFreeText: Not reported

      CaseNotHPOs: Not reported

      CaseNotHPOFreeText: Not reported

      CasePreviousTesting: Not reported

      Genotyping Method: Next Generation Sequencing

      FunctionalAnalysis: Not reported

      Variant: c.431T>A (Leu144Gln)

      ClinVar: Not found

      CAID: Not found

      gnomAD: Not found

      AdditionalInfo: Clinical Significance: Known/pahtogenic. Allele coverage: 227.

      Gene:TNNI3 DiseaseEntity:HCM Variant:Missense HGNCID:11947 InheritancePattern:AutosomalDominant inferred_gene_hgnc:11947 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
    3. ClingenBaseline 09 Nov 2026
      LO8 Yes MYBPC3 16 c.1624G>C Glu542Gln MISSENSE/SPLICING known/pathogenic rs121909374 yes 353 188 TNNI3 6 c.385C>G Thr128Ser MISSENSE new/likely benign 400 204

      Case#: L08

      DiseaseAssertion: Late onset hypertrophic cardiomyopathy

      FamilyInfo: Familiarity case reported as "yes"

      ParentalTesting: Not reported

      CasePresentingHPOs: HP:0001639

      CaseHPOFreeText: Not reported

      CaseNotHPOs: Not reported

      CaseNotHPOFreeText: Not reported

      CasePreviousTesting: Not reported

      Genotyping Method: Next Generation Sequencing

      FunctionalAnalysis: Not reported

      Variant: c.1624G>C (Glu542Gln), heterozygous, pathogenic. c.385C>G (Thr128Ser) heterozygous, likely benign.

      ClinVar: Not found

      CAID: CA407440771 (MYBPC3 CAID not found)

      gnomAD: Not found

      AdditionalInfo: L08 has two variants. MYBPC3 variant missense/splicing, known pathogenic; Allele coverage 188. TNNI3 variant Missense, new/likely benign; Allele coverage 400.

      HGNCID:11947 HGNCID:7551 Gene:MYBPC3 Gene:TNNI3 InheritancePattern:AutosomalDominant DiseaseEntity:HCM Variant:Missense CAID:CA407440771 Zygosity:Heterozygous inferred_gene_hgnc:11947 inferred_gene_source:HGNC_body Cardiomyopathy Annotation
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    pmc.ncbi.nlm.nih.gov/articles/PMC5000637/