ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13026_13027AT[1] (p.Tyr4343fs) (rs760832994)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000771332 SCV000903608 uncertain significance Familial hypercholesterolemias 2018-09-11 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant deletes two nucleotides in the last exon of the APOB gene, causing a frameshift at codon 4343 and a premature translational stop signal three amino acids later (p.Tyr4343Cysfs*3). The mutant mRNA may escape nonsense-mediated decay and be expressed as a truncated protein that lacks the last 238 amino acids from the C-terminal end. To our knowledge, functional assays have not been performed for this variant. This variant has been reported in a Malaysian individual affected with a mild hypercholesterolemia (PMID: 23775634). This variant has also been identified in 4/237974 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000508887 SCV000605950 pathogenic Familial hypercholesterolemia no assertion criteria provided research

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