ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.806G>A (p.Gly269Asp) (rs143992984)

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Total submissions: 14
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CSER_CC_NCGL; University of Washington Medical Center RCV000148586 SCV000190300 uncertain significance Hypercholesterolaemia 2014-06-01 no assertion criteria provided research
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000210247 SCV000266316 likely benign Familial hypercholesterolemia 2015-08-31 criteria provided, single submitter research MAF =<0.3%. "Little/No effect" on the LDL receptor activity based on experimental validation.
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000210247 SCV000322915 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 0/212 non-FH alleles
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000210247 SCV000503239 likely benign Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 3 / FH-Rome-3 / Software predictions: Conflicting
Color RCV000775049 SCV000909148 likely benign Familial hypercholesterolemias 2018-07-10 criteria provided, single submitter clinical testing
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000161966 SCV000189541 not provided not provided no assertion provided in vitro
Fundacion Hipercolesterolemia Familiar RCV000210247 SCV000607503 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Iberoamerican FH Network RCV000210247 SCV000748174 likely benign Familial hypercholesterolemia 2016-03-01 no assertion criteria provided research
Integrated Genetics/Laboratory Corporation of America RCV000161966 SCV000697252 benign not provided 2016-03-11 criteria provided, single submitter clinical testing Variant summary: c.806G>A affects a non-conserved nucleotide, resulting in amino acid change from Gly to Asp. 2/4 in-silico tools predict this variant to be benign (SNPs&GO not captured due to low reliability index). Functional study showed that the LDL uptake, binding capacity of LDL, and LDLR expression of variant were similar to those observed in control cells (Etxebarria_2012), indicating the neutral effect. This variant was found in 24/131566 control chromosomes at a frequency of 0.0001824. This variant has been reported in multiple FH patients without strong evidence for causality. Among the reported patients, variant was reported to co-occur with a deleterious LDLR variant c.1045delC in cis (Mozas_2004) and there is at least one family reported with lack of co-segregation of this variant with disease (Bourbon_2008). In addition, variant has been detected in early-onset myocardial infarction case with comparable allele frequency as in controls and multiple publications listed variant as nonpathogenic/benign (Do_2015, Etxebarre_2012, and Benito-Vicente_2015). Considering all, this variant is classified as Benign.
Invitae RCV000210247 SCV000752451 likely benign Familial hypercholesterolemia 2017-10-17 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000210247 SCV000294983 likely benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000210247 SCV000606229 pathogenic Familial hypercholesterolemia no assertion criteria provided research
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000210247 SCV000588518 likely benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000210247 SCV000583743 likely pathogenic Familial hypercholesterolemia 2017-03-30 criteria provided, single submitter clinical testing

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