ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.387-2A>G (rs796053169)

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 RCV000189190 SCV000242822 pathogenic not provided 2017-03-24 criteria provided, single submitter clinical testing The c.387-2 A>G splice site variant in the SCN2A gene destroys the canonical splice acceptor site in intron 3. It is predicted to cause abnormal gene splicing leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. Although this variant has not been reported previously to our knowledge, it is expected to be a pathogenic variant

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.