ClinVar Miner

Submissions for variant NM_000527.4(LDLR):c.694+9G>A (rs34093283)

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
Color RCV000775603 SCV000909967 likely benign Familial hypercholesterolemia 2018-03-11 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000780375 SCV000917577 benign not specified 2018-04-23 criteria provided, single submitter clinical testing Variant summary: LDLR c.694+9G>A alters a non-conserved nucleotide located close to a canonical splice site and therefore could affect mRNA splicing. 3/5 computational tools predict some impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The observed variant frequency within African control individuals in the gnomAD database is approximately 1.2 fold of the estimated maximal expected allele frequency for a pathogenic variant in LDLR causing Familial Hypercholesterolemia phenotype (0.0013), strongly suggesting that the variant is a benign polymorphism found primarily in populations of African origin. To our knowledge, no occurrence of c.694+9G>A in individuals affected with Familial Hypercholesterolemia and no experimental evidence demonstrating its impact on protein function have been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as benign.
Invitae RCV000775603 SCV001006705 benign Familial hypercholesterolemia 2019-12-31 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.