ClinVar Miner

Submissions for variant NM_000527.5(LDLR):c.565G>A (p.Val189Met)

dbSNP: rs370820135
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 RCV000238485 SCV000294796 likely benign Hypercholesterolemia, familial, 1 2016-03-25 criteria provided, single submitter literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004689692 SCV005185856 uncertain significance not specified 2024-05-29 criteria provided, single submitter clinical testing Variant summary: LDLR c.565G>A (p.Val189Met) results in a conservative amino acid change in the encoded protein sequence. Five of five in-silico tools predict a benign effect of the variant on protein function. The variant allele was found at a frequency of 4e-06 in 251294 control chromosomes. c.565G>A has been reported in the literature in at least two heterozygous individuals affected with Familial Hypercholesterolemia (e.g., Yu_2002, Leigh_2008). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. The following publications have been ascertained in the context of this evaluation (PMID: 18325082, 12417285). ClinVar contains an entry for this variant (Variation ID: 251300). Based on the evidence outlined above, the variant was classified as VUS-possibly pathogenic.
All of Us Research Program, National Institutes of Health RCV000238485 SCV005426455 uncertain significance Hypercholesterolemia, familial, 1 2024-08-06 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.