ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.2390-2A>G (rs767790696)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Fundacion Hipercolesterolemia Familiar RCV000238115 SCV000607701 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter research
Invitae RCV000238115 SCV000544639 pathogenic Familial hypercholesterolemia 2017-12-04 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 16 of the LDLR gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs767790696, ExAC 0.002%). This variant has been reported in several individuals affected with familial hypercholesterolemia and has been shown to segregate with the phenotype (PMID: 8141835, 10441197, 12052488, 20145306, 21382890, 10441197). This variant is also known as IVS16-2A>G in the literature. ClinVar contains an entry for this variant (Variation ID: 252313). Experimental studies have demonstrated that this intronic change leads to a splicing defect (PMID: 8141835). For these reasons, this variant has been classified as Pathogenic.
LDLR-LOVD, British Heart Foundation RCV000238115 SCV000295983 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum RCV000238115 SCV000606639 pathogenic Familial hypercholesterolemia no assertion criteria provided research
Robarts Research Institute,Western University RCV000238115 SCV000782940 pathogenic Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.