ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.733AAG[1] (p.Lys246del)

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 RCV003752918 SCV004509311 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2023-11-28 criteria provided, single submitter clinical testing This variant, c.736_738del, results in the deletion of 1 amino acid(s) of the SCN1A protein (p.Lys246del), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of Dravet syndrome (PMID: 31031587; Invitae). In at least one individual the variant was observed to be de novo. 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.