ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.1133T>A (p.Leu378Gln)

dbSNP: rs1698003832
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002043145 SCV002301017 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-08-31 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN1A protein function. ClinVar contains an entry for this variant (Variation ID: 1510730). This missense change has been observed in individual(s) with Dravet syndrome (PMID: 18930999). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces leucine, which is neutral and non-polar, with glutamine, which is neutral and polar, at codon 378 of the SCN1A protein (p.Leu378Gln).
CeGaT Center for Human Genetics Tuebingen RCV002511127 SCV002822711 likely pathogenic not provided 2022-10-01 criteria provided, single submitter clinical testing SCN1A: PM1, PM2, PP2, PP3, PS4:Supporting

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.