ClinVar Miner

Submissions for variant NM_014927.5(CNKSR2):c.1282C>T (p.Arg428Ter) (rs1064794022)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000482053 SCV000567609 pathogenic not provided 2015-08-06 criteria provided, single submitter clinical testing The R428X variant in the CNKSR2 gene has not been reported previously as a pathogenic variantnor as a benign polymorphism, to our knowledge. This variant is predicted to cause loss of normal proteinfunction either through protein truncation or nonsense-mediated mRNA decay. The R428X variant wasnot observed in approximately 6,500 individuals of European and African American ancestry in the NHLBIExome Sequencing Project, indicating it is not a common benign variant in these populations. We interpretR428X as a pathogenic variant.
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals RCV000482053 SCV000803682 likely pathogenic not provided 2017-07-10 no assertion criteria provided 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.