ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.3970-11_4003del (rs1559128532)

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
Invitae RCV000702114 SCV000830949 pathogenic Early infantile epileptic encephalopathy 2018-04-25 criteria provided, single submitter clinical testing This variant is a gross deletion of the genomic region encompassing part of exon 21 of the SCN1A gene, including the intron 20-exon 21 boundary (c.4003-11_4036del). This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN1A-related disease. 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.