ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.487A>G (p.Met163Val)

dbSNP: rs767608329
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 RCV001905995 SCV002153344 uncertain significance Brugada syndrome 5 2021-03-24 criteria provided, single submitter clinical testing This sequence change replaces methionine with valine at codon 163 of the SCN1B protein (p.Met163Val). The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.3:c.*5057A>G in the primary transcript. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN1B-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.