ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.1725C>T (p.Leu575=) (rs1799898)

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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 RCV000238053 SCV000295614 benign Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000247994 SCV000304687 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000238053 SCV000322972 benign Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research 4 Hmz + 27 Htz / 125 non-FH individuals; MAF = 11,0% in 86 Spanish healthy individuals
Illumina Clinical Services Laboratory,Illumina RCV000238053 SCV000410536 likely benign Familial hypercholesterolemia 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000247994 SCV000513478 benign not specified 2016-02-17 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 RCV000238053 SCV000689766 benign Familial hypercholesterolemia 2017-06-22 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000247994 SCV000711399 benign not specified 2017-03-15 criteria provided, single submitter clinical testing Leu575Leu in exon 12 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 13.8% (1072/8600) of European chromosomes from a broad population by the Exome Aggregation Consortiu m (ExAC, http://exac.broadinstitute.org; dbSNP rs1799898).
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000238053 SCV000987022 benign Familial hypercholesterolemia 2018-06-11 criteria provided, single submitter clinical testing Due to the increased occurrence of the mutation (>= 5%), this variant is classified as benign.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238053 SCV000606499 benign Familial hypercholesterolemia no assertion criteria provided research

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