ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.3G>A (p.Met1Ile)

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 RCV003623809 SCV004517856 pathogenic Brugada syndrome 5 2023-01-02 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Disruption of the initiator codon has been observed in individuals with clinical features of generalized epilepsy with febrile seizures plus (PMID: 30660056; Invitae). It has also been observed to segregate with disease in related individuals. This variant is not present in population databases (gnomAD no frequency). This sequence change affects the initiator methionine of the SCN1B mRNA. The next in-frame methionine is located at codon 34.

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.