ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.693C>A (p.Cys231Ter)

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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000003928 SCV000294914 pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000003928 SCV000484681 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 RCV000003928 SCV000503223 pathogenic Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 4 , family members = 9 with co-segregation
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000003928 SCV000540756 pathogenic Familial hypercholesterolemia 1 2016-11-05 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000003928 SCV000583728 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology, University of São Paulo RCV000003928 SCV000588513 pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color RCV000775046 SCV000909144 pathogenic Familial hypercholesterolemia 2018-06-18 criteria provided, single submitter clinical testing Pathogenic variant based on current evidence: This variant is a single nucleotide substitution in exon 4 of the LDLR gene, which creates a premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. To our knowledge, functional assays have not been performed for this variant. While this variant is rare in the general population (0/277264 chromosomes in the Genome Aggregation Database (gnomAD)), it has been reported in multiple individuals affected with familial hypercholesterolemia (PMID: 8093663, 16389549, 22883975). Truncating variants in LDLR are known to be pathogenic (PMID: 20809525). Based on available evidence, this variant is classified as Pathogenic.
Invitae RCV000775046 SCV000952013 pathogenic Familial hypercholesterolemia 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys231*) 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 has been observed in many individuals affected with familial hypercholesterolemia (PMID: 8093663, 22698793, 27680772, 16389549, 22883975, 20145306, 21310417, 10559517). This variant is also known as Cys210X in the literature. ClinVar contains an entry for this variant (Variation ID: 3730). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003928 SCV000024093 pathogenic Familial hypercholesterolemia 1 1993-01-01 no assertion criteria provided literature only
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000003928 SCV000268583 pathogenic Familial hypercholesterolemia 1 2008-07-09 no assertion criteria provided clinical testing

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