ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.304C>T (p.Gln102Ter) (rs563390335)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Cardiovascular Genetics Laboratory,PathWest Laboratory Medicine WA - Fiona Stanley Hospital RCV000211634 SCV000268551 pathogenic Familial hypercholesterolemia 2015-11-27 no assertion criteria provided clinical testing
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge RCV000211634 SCV000599323 pathogenic Familial hypercholesterolemia 2016-03-01 criteria provided, single submitter curation
Invitae RCV000819308 SCV000959961 pathogenic Familial hypercholesterolemias 2018-12-28 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln102*) in the LDLR gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs563390335, ExAC 0.001%). This variant has been observed to segregate with familial hypercholesterolemia in a family (PMID: 17196209), in individuals affected with this condition (PMID: 1301956, 28965616, 18096825, 20045108) and in an individual affected with myocardial infarction (PMID: 25487149). This variant is also known as Q81X and FH Raponi in the literature. ClinVar contains an entry for this variant (Variation ID: 226314). Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525). For these reasons, this variant has been classified as Pathogenic.
LDLR-LOVD, British Heart Foundation RCV000211634 SCV000294594 pathogenic Familial hypercholesterolemia 2016-03-25 criteria provided, single submitter literature only
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation RCV000211634 SCV000540907 pathogenic Familial hypercholesterolemia 2017-03-27 criteria provided, single submitter clinical testing
Robarts Research Institute,Western University RCV000211634 SCV000782945 pathogenic Familial hypercholesterolemia 2018-01-02 criteria provided, single submitter clinical testing
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille RCV000211634 SCV000583651 pathogenic Familial hypercholesterolemia 2017-03-30 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.