ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.1640T>C (p.Leu547Pro) (rs879254968)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LDLR-LOVD, British Heart Foundation RCV000238388 SCV000295554 likely pathogenic Familial hypercholesterolemia 1 2016-03-25 criteria provided, single submitter research
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine RCV000238388 SCV000839984 likely pathogenic Familial hypercholesterolemia 1 2017-09-19 criteria provided, single submitter clinical testing This c.1640T>C (p.Leu547Pro) variant in the LDLR gene has been reported in multiple individuals with familial hypercholesterolemia and has been shown to segregate with affected status in one family (PMID: 22881376, 28161202). The c.1640T>C variant is not detected in the general population and leucine at position 547 of the LDLR protein is highly evolutionarily conserved. The c.1640T>C (p.Leu547Pro) variant in the LDLR gene is classified as likely pathogenic.
Color Health, Inc RCV000775074 SCV000909176 uncertain significance Familial hypercholesterolemia 2019-04-02 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.