ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1176C>A (p.Cys392Ter) (rs750649426)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237256 SCV000295259 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237256 SCV000322934 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/200 non-FH alleles; 0/200 Brazilian (european ancestry) normolipidemic individuals; 0/200 normal chromosomes
Robarts Research Institute,Western University RCV000237256 SCV000484709 likely pathogenic Familial hypercholesterolemia 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 RCV000237256 SCV000503309 pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1 , family member = 1 with co-segregation / previously described in association with FH
Invitae RCV000237256 SCV000544688 pathogenic Familial hypercholesterolemia 2016-12-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal at codon 392 (p.Cys392*) 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 heterozygous and homozygous familial hypercholesterolemia (PMID: 8831933, 11933210, 20828696, 21382890, 25461735). This variant is also known as Cys371* in the literature. ClinVar contains an entry for this variant (Variation ID: 251699). For these reasons, this variant has been classified as Pathogenic.
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237256 SCV000583799 pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000237256 SCV000588561 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Fundacion Hipercolesterolemia Familiar RCV000237256 SCV000607567 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research

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