ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.564C>G (p.Tyr188Ter) (rs121908034)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000003925 SCV000294795 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Robarts Research Institute,Western University RCV000003925 SCV000484764 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 RCV000003925 SCV000503182 pathogenic Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1/previously described in association with FH
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000003925 SCV000599335 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter curation
Invitae RCV000003925 SCV000627042 pathogenic Familial hypercholesterolemia 2018-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr188*) 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 reported to segregate with familial hypercholesterolemia in a single family (PMID: 1734722) and has been observed in several individuals with familial hypercholesterolemia (PMID: 8882879). This variant is also known as p.Tyr167* in the literature. ClinVar contains an entry for this variant (Variation ID: 3727). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000003925 SCV000024090 pathogenic Familial hypercholesterolemia 1992-02-01 no assertion criteria provided literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000003925 SCV000606160 pathogenic Familial hypercholesterolemia no assertion criteria provided research

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