ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.741_745del (p.Thr248fs)

dbSNP: rs1663984693
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003804776 SCV004607607 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2024-01-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Thr248Glyfs*3) 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 is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with APOB-related conditions (PMID: 29572815). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004721227 SCV005327060 likely pathogenic not provided 2023-09-18 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 29572815, 33207932, 33111339)

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