ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3896del (p.Pro1299fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003798916 SCV004584016 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-04-20 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro1299Leufs*12) in the APOB gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in APOB are known to be pathogenic (PMID: 20032471). This variant has not been reported in the literature in individuals affected with APOB-related conditions. For these reasons, this variant has been classified as Pathogenic.

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