ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2106G>A (p.Met702Ile) (rs140731590)

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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000352480 SCV000410541 uncertain significance Familial hypercholesterolemia 1 2018-01-13 criteria provided, single submitter clinical testing This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score, this variant could not be ruled out of causing disease and therefore its association with disease required further investigation. A literature search was performed for the gene, cDNA change, and amino acid change (if applicable). No publications were found based on this search. This variant was therefore classified as a variant of unknown significance for this disease.
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000352480 SCV000503464 likely benign Familial hypercholesterolemia 1 2016-12-16 criteria provided, single submitter clinical testing subject mutated among 2600 FH index cases screened = 1/Software predictions: Conflicting
Invitae RCV000775088 SCV000752436 likely benign Familial hypercholesterolemia 2019-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000712213 SCV000842651 uncertain significance not provided 2017-12-01 criteria provided, single submitter clinical testing
Color RCV000775088 SCV000909192 likely benign Familial hypercholesterolemia 2020-01-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000712213 SCV001134258 uncertain significance not provided 2019-03-25 criteria provided, single submitter clinical testing
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000352480 SCV000606600 pathogenic Familial hypercholesterolemia 1 no assertion criteria provided research

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