ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1768C>T (p.Gln590Ter)

dbSNP: rs746081291
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 RCV001383083 SCV001582104 pathogenic Neonatal-onset encephalopathy with rigidity and seizures 2022-05-05 criteria provided, single submitter clinical testing The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BRAT1 protein in which other variant(s) (p.Phe709Thrfs*17) have been determined to be pathogenic (PMID: 27480663, 29431110; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1070797). This variant has not been reported in the literature in individuals affected with BRAT1-related conditions. This sequence change creates a premature translational stop signal (p.Gln590*) in the BRAT1 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 232 amino acid(s) of the BRAT1 protein.

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.