ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2177C>T (p.Thr726Ile) (rs45508991)

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Total submissions: 21
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Biomarker Research Laboratory,Mayo Clinic RCV000030134 SCV000323104 likely benign Familial hypercholesterolemia 2016-08-31 criteria provided, single submitter research does not meet required criteria. "Little/No effect" on the LDL receptor activity based on experimental validation.
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000030134 SCV000323004 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 1Hmz + 1Htz/100 normolipidemic individuals; 0/200 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 RCV000030134 SCV000503472 benign Familial hypercholesterolemia 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 17/Software predictions: Benign
Color RCV000030134 SCV000689774 likely benign Familial hypercholesterolemia 2017-06-26 criteria provided, single submitter clinical testing
Color RCV000771082 SCV000902622 benign Familial hypercholesterolemias 2018-06-28 criteria provided, single submitter clinical testing
Dept. of Genetics and Pharmacogenomics, Merck Research Labs RCV000162011 SCV000189586 not provided not provided no assertion provided in vitro
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen RCV000030134 SCV000733831 benign Familial hypercholesterolemia no assertion criteria provided clinical testing
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia RCV000030134 SCV000296927 benign Familial hypercholesterolemia 2015-07-20 criteria provided, single submitter clinical testing
Fundacion Hipercolesterolemia Familiar RCV000030134 SCV000607682 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
GeneDx RCV000247593 SCV000730513 benign not specified 2017-07-10 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.
Iberoamerican FH Network RCV000030134 SCV000748059 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Institute for Integrative and Experimental Genomics,University of Luebeck RCV000030134 SCV000212141 likely benign Familial hypercholesterolemia criteria provided, single submitter research
Integrated Genetics/Laboratory Corporation of America RCV000030134 SCV000052789 uncertain Familial hypercholesterolemia 2011-08-18 criteria provided, single submitter curation Converted during submission to Uncertain significance.
Invitae RCV000030134 SCV000556773 benign Familial hypercholesterolemia 2018-01-15 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000030134 SCV000295909 benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000030134 SCV000606613 benign Familial hypercholesterolemia no assertion criteria provided research
Laboratory of Genetics and Molecular Cardiology,University of São Paulo RCV000030134 SCV000588642 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000030134 SCV000540902 benign Familial hypercholesterolemia 2017-03-23 criteria provided, single submitter clinical testing
PreventionGenetics RCV000247593 SCV000304690 likely benign not specified criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000162011 SCV000888164 benign not provided 2018-03-31 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000030134 SCV000782936 benign Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

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