ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.11060_11061delinsAA (p.Phe3687Ter)

dbSNP: rs1663117641
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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 RCV001838432 SCV001380001 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2023-08-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with APOB-related conditions. This sequence change creates a premature translational stop signal (p.Phe3687*) 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). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. ClinVar contains an entry for this variant (Variation ID: 939237). For these reasons, this variant has been classified as Pathogenic.

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