ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2232A>G (p.Arg744=) (rs5927)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238103 SCV000295923 benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000252146 SCV000304691 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238103 SCV000323005 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 54 Hmz + 75 Htz / 135 non-FH individuals; MAF = 29,1% in 86 Spanish healthy individuals
Illumina Clinical Services Laboratory,Illumina RCV000238103 SCV000410543 benign 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 and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
GeneDx RCV000252146 SCV000524334 benign not specified 2016-09-28 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.
Color RCV000238103 SCV000689775 benign Familial hypercholesterolemia 1 2017-06-01 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000252146 SCV000711400 benign not specified 2017-11-14 criteria provided, single submitter clinical testing Arg744Arg in exon 15 of LDLR: This variant is not expected to have clinical sign ificance because it does not alter an amino acid residue and is not located with in the splice consensus sequence. It has been identified in 31.3% (1377/4406) of African American chromosomes from a broad population by the NHLBI Exome Sequenc ing Project (http://evs.gs.washington.edu/EVS; dbSNP rs5927).
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000238103 SCV000987010 benign Familial hypercholesterolemia 1 2018-06-11 criteria provided, single submitter clinical testing Due to the increased occurrence of the mutation (>= 5%) and the current estimates of databases (LOVD 3), this variant is classified as benign.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238103 SCV000606617 benign Familial hypercholesterolemia 1 no assertion criteria provided research

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