ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1825C>T (p.Arg609Trp)

gnomAD frequency: 0.00001  dbSNP: rs886039312
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
GeneDx RCV000255518 SCV000321419 likely pathogenic not provided 2016-01-04 criteria provided, single submitter clinical testing The R609W variant in the BRAT1 gene has now been reported by Hanes et al. (2015) in a child with lethal neonatal rigidity and seizure syndrome and the c.294dupA variant on the opposite BRAT1 allele, who is likely this individual's niece. The R609W variant was not observed in approximately 6400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R609W variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. The R609W variant is a strong candidate for a pathogenic variant, however the possibility it may be a rare benign variant cannot be excluded.
Invitae RCV000650104 SCV000771941 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2021-09-01 criteria provided, single submitter clinical testing
OMIM RCV000677128 SCV000803198 pathogenic Neurodevelopmental disorder with cerebellar atrophy and with or without seizures 2018-08-02 no assertion criteria provided literature only

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.