ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4517C>A (p.Ser1506Ter) (rs1287017958)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000760824 SCV000890719 pathogenic not provided 2018-11-06 criteria provided, single submitter clinical testing The S1506X nonsense variant in the SCN2A gene is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The S1506X variant is not observed in large population cohorts (Lek et al., 2016).

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.