ClinVar Miner

Submissions for variant NM_174936.4(PCSK9):c.1539C>T (p.Asn513=)

gnomAD frequency: 0.00004  dbSNP: rs781492750
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
Color Diagnostics, LLC DBA Color Health RCV000581920 SCV000690971 likely benign Hypercholesterolemia, familial, 1 2017-10-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002065108 SCV002491373 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-06-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002404584 SCV002705860 likely benign Cardiovascular phenotype 2022-07-29 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003323622 SCV004029945 likely benign not specified 2023-07-17 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV002065108 SCV004845809 likely benign Hypercholesterolemia, autosomal dominant, 3 2023-12-13 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.