ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.12696T>A (p.Tyr4232Ter) (rs1466172660)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color RCV000772834 SCV000906216 uncertain significance Familial hypercholesterolemia 2018-05-11 criteria provided, single submitter clinical testing Variant of Uncertain Significance due to insufficient evidence: This variant (also known as p.Tyr4205* in the mature protein) creates a premature translation stop codon in the last exon of the APOB gene. The mutant transcript may escape non-sense mediated decay and, therefore, be expressed as a truncated protein lacking the last 232 amino acids from the C-terminus of the APOB protein. However, to our knowledge, functional assays have not been performed for this variant. This variant has not been reported in individuals affected with familial hypercholesterolemia in the literature. This variant is rare in the general population and has been identified in 1/245216 chromosomes by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the pathogenicity of this variant conclusively.

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