ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1959T>C (p.Val653=) (rs5925)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238160 SCV000322991 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research MAF = 48,3% in 86 Spanish healthy individuals
Color RCV000238160 SCV000689770 benign Familial hypercholesterolemia 2017-06-22 criteria provided, single submitter clinical testing
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000238160 SCV000987009 likely benign Familial hypercholesterolemia 2018-07-16 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 likely benign.
GeneDx RCV000244560 SCV000518269 benign not specified 2016-09-30 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.
Illumina Clinical Services Laboratory,Illumina RCV000238160 SCV000410539 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
LDLR-LOVD, British Heart Foundation RCV000238160 SCV000295777 benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238160 SCV000606563 benign Familial hypercholesterolemia no assertion criteria provided research
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000244560 SCV000966305 benign not specified 2018-02-07 criteria provided, single submitter clinical testing Val653Val in exon 13 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 53% (18213/34392) of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.br oadinstitute.org; dbSNP rs5925). ACMG/AMP Criteria applied: BA1 (Richards 2015).
PreventionGenetics RCV000244560 SCV000304689 benign not specified criteria provided, single submitter clinical testing

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