ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3073C>T (p.Gln1025Ter) (rs542420576)

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
Center for Bioinformatics, Peking University RCV000180930 SCV000221910 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
Invitae RCV000636324 SCV000757763 pathogenic Early infantile epileptic encephalopathy 2017-09-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln1036*) in the SCN1A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported to be de novo in an individual affected with Dravet syndrome (PMID: 21868258). ClinVar contains an entry for this variant (Variation ID: 189975). Loss-of-function variants in SCN1A are known to be pathogenic (PMID: 17347258, 18930999). For these reasons, this variant has been classified as Pathogenic.

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.