ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.2295_2302del (p.Thr766fs)

dbSNP: rs1057519687
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies, APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix RCV000417229 SCV000503478 pathogenic Hypercholesterolemia, familial, 1 2016-12-16 criteria provided, single submitter clinical testing subjects mutated among 2600 FH index cases screened = 2
Labcorp Genetics (formerly Invitae), Labcorp RCV001851013 SCV002125582 pathogenic Familial hypercholesterolemia 2021-06-09 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has been observed in individual(s) with autosomal dominant hypercholesterolemia (PMID: 26802169). ClinVar contains an entry for this variant (Variation ID: 375837). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Thr766Serfs*13) in the LDLR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in LDLR are known to be pathogenic (PMID: 20809525, 28645073).

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.