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    A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort
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    1. ClingenBaseline 24 Oct 2026

      Table 5

      Case EO9: Italian

      DiseaseAssertion: HCM (early-onset)

      FamilyInfo: positive family history

      CasePreviousTesting: echocardiography, Full testing (MYBPC3, MYH7, TNNT2, TNNI3, TPM1, MYL2, MYL3, ACTC1), additional testing: (GLA, LAMP2, PRKAG2, TNNC1, MYH6, CSPR3, PLN, TCAP, CAV3), electrocardiography

      CaseGenotypingMethod: Genomic DNA extracted from periphera whole blood, emulsion PCR, 17 HCM genes sequenced using Personal Genome Machine (PGM) IonTorrent sequencer, variants confirmed via Sanger sequencing

      Variant: NM_000257.3:c.2146G>C

      CAID: CA389049033, http://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/by_caid?caid=CA389049033

      gnomAD: n/a

      MultipleGeneVariants:

      (1) MYBPC3 Variant:

      Variant: NM_000256.3(MYBPC3):c.1483C>T (p.Arg495Trp)

      ClinVar: 164114, https://www.ncbi.nlm.nih.gov/clinvar/variation/164114/

      gnomAD: n/a

      Individual CaseInfo HCM NoInheritanceAssertion FullPreviousTesting AdditionalPreviousTesting FamilyInfo CA389049033 MultipleGeneVariants inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
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