1 Matching Annotations
  1. Last 7 days
  2. www.mdpi.com www.mdpi.com
    A Next-Generation Sequencing Approach to Identify Gene Mutations in Early- and Late-Onset Hypertrophic Cardiomyopathy Patients of an Italian Cohort
    1
    1. ClingenBaseline 24 Oct 2026

      Table 5

      Case EO5: Italian

      DiseaseAssertion: HCM (early-onset)

      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

      Variant1: NM_000257.3(MYH7):c.1816G>A (p.Val606Met)

      ClinVar: 14091, https://www.ncbi.nlm.nih.gov/clinvar/variation/14091/

      gnomAD: 0.000007070, https://gnomad.broadinstitute.org/variant/14-23896866-C-T

      Variant2: NM_000257.3(MYH7):c.676G>A (p.Ala226Thr)

      ClinVar: 372429, https://www.ncbi.nlm.nih.gov/clinvar/variation/372429/

      gnomAD: n/a

      Individual CaseInfo HCM NoInheritanceAssertion FullPreviousTesting AdditionalPreviousTesting ClinVarID:14091 ClinVarID:372429 inferred_gene_hgnc:11474 inferred_gene_source:ClinVar Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    mdpi.com/1422-0067/17/8/1239/htm