ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.671del (p.Pro224fs)

dbSNP: rs1572801523
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001838217 SCV000943521 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2018-09-05 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Pro224Hisfs*8) 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). For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with APOB-related disease.

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