ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1595_1596dup (p.Trp533fs)

dbSNP: rs1568606711
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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 RCV002232971 SCV000833444 pathogenic Familial hypercholesterolemia 2018-04-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp533Thrfs*16) in the LDLR gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with LDLR-related disease. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.

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