ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1392del (p.Tyr465fs)

dbSNP: rs879254888
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237257 SCV000295409 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237257 SCV000583827 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001034625 SCV000817307 pathogenic Familial hypercholesterolemia 2019-03-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr465Metfs*42) 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 was reported in an individual affected with familial hypercholesterolemia (PMID: 16250003) note, that this publication erroneously reported the protein effect at this position as p.Asp464GlufsX18. ClinVar contains an entry for this variant (Variation ID: 251825). 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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