ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1171G>A (p.Ala391Thr) (rs11669576)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000237576 SCV000295254 benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000241875 SCV000304683 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237576 SCV000322933 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research MAF = 0.10 in normolipidemic controls; MAF = 8,7% in 86 Spanish healthy individuals; 0/200 Brazilian (european ancestry) normolipidemic individuals; 0/100 healthy control individuals; 0/77 healthy control individuals
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000237576 SCV000323101 likely benign Familial hypercholesterolemia 2016-08-31 criteria provided, single submitter research DLCN criteria >=3.
Illumina Clinical Services Laboratory,Illumina RCV000237576 SCV000410531 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000237576 SCV000484696 likely benign Familial hypercholesterolemia 2019-08-22 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 RCV000237576 SCV000503308 benign Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 201 6 being homozygotes / Software predictions: Benign
GeneDx RCV000241875 SCV000520997 benign not specified 2017-01-05 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000237576 SCV000540899 benign Familial hypercholesterolemia 2017-03-22 criteria provided, single submitter clinical testing
Invitae RCV000237576 SCV000556774 benign Familial hypercholesterolemia 2017-08-18 criteria provided, single submitter clinical testing
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000237576 SCV000588559 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Athena Diagnostics Inc RCV000241875 SCV000614003 likely benign not specified 2017-03-21 criteria provided, single submitter clinical testing
Color RCV000237576 SCV000689758 benign Familial hypercholesterolemia 2017-06-22 criteria provided, single submitter clinical testing
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000237576 SCV000987023 likely benign Familial hypercholesterolemia 2018-07-23 criteria provided, single submitter clinical testing Due to the increased occurrence of the mutation (>= 5%), this variant is classified as likely benign.
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000162023 SCV000189626 not provided not provided no assertion provided in vitro
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237576 SCV000606341 benign Familial hypercholesterolemia no assertion criteria provided research

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