ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1773C>T (p.Asn591=) (rs688)

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Total submissions: 8
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000182338 SCV000269224 benign not specified 2015-12-31 criteria provided, single submitter clinical testing p.Asn591Asn in exon 12 of LDLR: This variant is not expected to have clinical si gnificance because it has been identified in 37.8% (45902/121396) of chromosomes tested by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.or g; dbSNP rs688).
LDLR-LOVD, British Heart Foundation RCV000237654 SCV000295647 benign Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter literature only
PreventionGenetics,PreventionGenetics RCV000182338 SCV000304688 benign not specified criteria provided, single submitter clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000237654 SCV000322974 benign Familial hypercholesterolemia 1 2016-03-01 criteria provided, single submitter research 19 Hmz + 62 htz / 125 non-FH individuals; MAF = 48,3% in 86 Spanish healthy individuals
Illumina Clinical Services Laboratory,Illumina RCV000237654 SCV000410537 benign Familial hypercholesterolemia 1 2018-03-06 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.
Color RCV000237654 SCV000689767 benign Familial hypercholesterolemia 1 2017-06-22 criteria provided, single submitter clinical testing
Department of Human Genetics,Laborarztpraxis Dres. Walther, Weindel und Kollegen RCV000237654 SCV000987008 likely 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 likely benign.
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000237654 SCV000606510 benign Familial hypercholesterolemia 1 no assertion criteria provided research

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