ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2215C>T (p.Gln739Ter) (rs370018159)

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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 RCV000237494 SCV000295919 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000237494 SCV000484732 likely pathogenic Familial hypercholesterolemia 1 criteria provided, single submitter clinical testing
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000237494 SCV000503474 uncertain significance Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1/FH-Japan
Invitae RCV000791393 SCV000544653 pathogenic Familial hypercholesterolemia 2018-11-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 739 (p.Gln739*) of 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. This particular variant has been reported in the literature in individuals with familial hypercholesterolemia (PMID: 12417285, 20045108, 20538126, 21376320, 23375686). This variant is also known as p.Gln718X in the literature. For these reasons, this variant has been classified as Pathogenic.

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