ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4543C>T (p.Arg1515Ter)

dbSNP: rs1365774406
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001387540 SCV001588204 pathogenic Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2020-05-27 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with SCN2A-related conditions (PMID: 26637798). Loss-of-function variants in SCN2A are known to be pathogenic (PMID: 22495306, 23020937, 24650168). This sequence change creates a premature translational stop signal (p.Arg1515*) in the SCN2A gene. It is expected to result in an absent or disrupted protein product.

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.