ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2329A>G (p.Arg777Gly) (rs773571503)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000650114 SCV000771951 uncertain significance Rigidity and multifocal seizure syndrome, lethal neonatal 2020-09-30 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 777 of the BRAT1 protein (p.Arg777Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is present in population databases (rs773571503, ExAC 0.04%). This variant has not been reported in the literature in individuals with BRAT1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: Tolerated; PolyPhen-2: Benign; Align-GVGD: Class C0. The glycine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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.
Athena Diagnostics Inc RCV000710748 SCV000841046 uncertain significance not provided 2018-06-22 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764706 SCV000895840 uncertain significance Rigidity and multifocal seizure syndrome, lethal neonatal; Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 2018-10-31 criteria provided, single submitter clinical testing

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.