ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1171del (p.Ala391fs)

dbSNP: rs2147241900
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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 RCV001916330 SCV002179433 pathogenic Familial hypercholesterolemia 2021-05-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ala391Profs*22) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073). For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with familial hypercholesterolemia (PMID: 28965616). This variant is not present in population databases (ExAC no frequency).

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