ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1395G>A (p.Ser465_Gly466=)

gnomAD frequency: 0.00249  dbSNP: rs146960060
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000587347 SCV000699986 benign not provided 2016-05-05 criteria provided, single submitter clinical testing Variant summary: The PCSK9 variant, c.1395G>A (p.Ser465Ser) causes a synonymous change involving a non-conserved nucleotide with 5/5 in silico programs via Alamut predicting no significant effect on splicing, although these predictions have yet to be functionally assessed. The variant of interest has been observed in the large, broad control population, ExAC, with an allele frequency of 118/121334 (1/1028), predominantly in the African cohort, 112/10394 (1/92), which significantly exceeds the estimated maximum expected allele frequency for a pathogenic PCSK9 variant of 1/53191. Therefore, suggesting that the variant is a common polymorphism found in population(s) of African origin. The variant of interest, to our knowledge, has not been reported in affected individuals via publications and/or reputable clinical laboratories/databases. Therefore, taking all available lines of evidence into consideration, the variant of interest is classified as Benign.
Invitae RCV001083746 SCV000766254 benign Hypercholesterolemia, autosomal dominant, 3 2021-12-18 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000776125 SCV000911055 benign Familial hypercholesterolemia 2017-11-23 criteria provided, single submitter clinical testing
GeneDx RCV000587347 SCV001784902 likely benign not provided 2021-11-19 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV001821715 SCV002067194 likely benign not specified 2018-10-18 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.