ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.626G>A (p.Cys209Tyr) (rs879254600)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237316 SCV000294831 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000237316 SCV000540746 likely pathogenic Familial hypercholesterolemia 1 2016-11-05 criteria provided, single submitter clinical testing Disrupt disulfide bridge between Cys197 and Cys209.
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000237316 SCV000583712 pathogenic Familial hypercholesterolemia 1 2017-03-30 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000237316 SCV000607477 likely pathogenic Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research
Color Health, Inc RCV001523918 SCV001733655 likely pathogenic Familial hypercholesterolemia 2020-08-06 criteria provided, single submitter clinical testing This missense variant (also known as p.Cys188Tyr in the mature protein) replaces cysteine with tyrosine at codon 209 in the LDLR type A repeat 5 of the LDLR protein. This variant alters a conserved cysteine residue that is critical for proper protein folding and function (PMID: 2088165, 6091915, 15952897). Computational prediction suggests that this variant may have deleterious impact on protein structure and function (internally defined REVEL score threshold >= 0.7, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has been reported in over 20 individuals affected with familial hypercholesterolemia (PMID: 11754108, 21310417, 22698793, 27824480, 28502495, 29396260). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Based on the available evidence, this variant is classified as Likely Pathogenic.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237316 SCV000606173 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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