ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.191-3T>G

dbSNP: rs2077229353
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001189541 SCV001356851 uncertain significance Familial hypercholesterolemia 2019-04-27 criteria provided, single submitter clinical testing This intronic variant changes a single nucleotide near intron 2 splice acceptor site of the LDLR gene. Computational splicing tools suggest that this variant may disrupt RNA splicing. To our knowledge, functional assays have not been performed for this variant nor has this variant been reported in individuals affected with familial hypercholesterolemia in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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.