ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1150C>T (p.Gln384Ter)

dbSNP: rs879254805
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237144 SCV000295245 pathogenic Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237144 SCV000503304 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237144 SCV000583795 pathogenic Hypercholesterolemia, familial, 1 2017-03-30 criteria provided, single submitter clinical testing
Invitae RCV002519845 SCV003443102 pathogenic Familial hypercholesterolemia 2022-04-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln384*) 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). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with familial hypercholesterolemia (PMID: 19843101, 33740630). ClinVar contains an entry for this variant (Variation ID: 251688). For these reasons, this variant has been classified as Pathogenic.

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