ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4379A>G (p.Tyr1460Cys)

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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV003234626 SCV003932446 likely pathogenic Severe myoclonic epilepsy in infancy; Developmental and epileptic encephalopathy 6B 2023-05-26 criteria provided, single submitter clinical testing The c.4379A>G variant is not present in publicly available population databases like 1000 Genomes, ExAC, EVS, gnomAD, Indian Exome Database or our in-house exome database. This variant has been previously published in literature with SCN1A-related conditions [PMID: 36229510, 28864458]. It has not been reported to the clinical databases like in ClinVar, Human Gene Mutation Database (HGMD) or OMIM, in any affected individuals. In silico pathogenicity prediction programs like SIFT, PolyPhen2, MutationTaster2, CADD, Varsome, Franklin etc predicted this variant to be likely deleterious. The variant is located in a mutational hotspot region of the gene.

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.