ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2636T>C (p.Leu879Pro)

dbSNP: rs1559200901
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
Illumina Laboratory Services, Illumina RCV002260560 SCV002540246 uncertain significance Generalized epilepsy with febrile seizures plus 2021-12-21 criteria provided, single submitter clinical testing The SCN1A c.2636T>C (p.Leu879Pro) missense variant results in the substitution of leucine at amino acid position 879 with proline. This variant has been reported in a heterozygous state in one individual with Dravet syndrome (Møller et al. 2016; Brunklaus et al. 2020; Johannesen et al. 2020). Inheritance information was unavailable for this patient. This variant is not found in version 2.1.1 or version 3.1.2 of the Genome Aggregation Database. The c.2636T>C variant is located in the D2 transmembrane domain and multiple lines of computational evidence suggest the variant may have a deleterious effect on the gene or gene product. Based on the available evidence, the c.2636T>C (p.Leu879Pro) variant is classified as a variant of uncertain significance for generalized epilepsy with febrile seizures plus.

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.