ClinVar Miner

Submissions for variant NM_000384.3(APOB):c.3600T>A (p.Tyr1200Ter)

dbSNP: rs121918391
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001851950 SCV002240376 pathogenic Hypercholesterolemia, autosomal dominant, type B; Familial hypobetalipoproteinemia 1 2022-02-22 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 17901). This premature translational stop signal has been observed in individuals with familial hypobetalipoproteinemia (PMID: 12872264, 15984016). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Tyr1200*) 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.
OMIM RCV001837442 SCV000039787 pathogenic Familial hypobetalipoproteinemia 1 2005-07-01 no assertion criteria provided literature only

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