ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.13627C>T (p.Gln4543Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003809873 SCV004606809 uncertain significance Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln4543*) in the APOB gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 21 amino acid(s) of the APOB protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APOB-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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