1 Matching Annotations
  1. Last 7 days
  2. www.ncbi.nlm.nih.gov www.ncbi.nlm.nih.gov
    A Wide and Specific Spectrum of Genetic Variants and Genotype–Phenotype Correlations Revealed by Next‐Generation Sequencing in Patients with Left Ventricular Noncompaction
    1
    1. ClingenBaseline 21 Oct 2026

      Case153: Female, 0.083 years onset, Japan, Asian

      DiseaseAssertion: Left ventricular noncompaction

      CasePresentingHPOs: HP:0030682, HP:0025169 (Left ventricular noncompaction, Left ventricular systolic dysfunction)

      HPOsFreeText: Left Ventricular Ejection Fraction at 46%, LVDD-Z score at 0.795

      CaseNotHPOs: HP:0011675 (Arrhythmia)

      NotHPOsFreeText: Congenital heart disease with significant hemodynamic changes

      CaseAddInfo: Sister also has LVNC

      CasePreviousTesting: Genes tested include the 8 sarcomere genes as well as 65 more listed in Table S1.

      CaseGenotypingMethod: Genomic DNA was extracted from whole blood from each of the probands. Next Generation Sequencing of 73 genes related to cardiac function was performed, incorporating PCR amplification, and any variants found were subjected to filtering for frequency and pathogenicity. Any variants suggested to be pathogenic were confirmed by Sanger sequencing afterwards.

      Variant: NM_000257.3:c.1342G>A (p.Glu448Lys)

      CAID: CA389050830 https://reg.clinicalgenome.org/redmine/projects/registry/genboree_registry/allele?hgvs=NM_000257.3:c.1342G%3EA

      gnomAD: Not in gnomAD

      Individual CaseInfo Variant GenotypingMethod LVNC FullPreviousTesting AdditionalPreviousTesting SupplementalData NoInheritanceAssertion CA389050830 FamilyInfo inferred_gene_hgnc:7577 inferred_gene_source:CAID Cardiomyopathy Annotation
    Visit annotations in context

    Tags

    Annotators

    URL

    ncbi.nlm.nih.gov/pmc/articles/PMC5634278/