ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.1879G>A (p.Ala627Thr)

gnomAD frequency: 0.00006  dbSNP: rs750400556
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
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics RCV000513953 SCV000609886 uncertain significance not provided 2017-09-11 criteria provided, single submitter clinical testing
Invitae RCV000650102 SCV000771939 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-03-01 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 627 of the BRAT1 protein (p.Ala627Thr). This variant is present in population databases (rs750400556, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with BRAT1-related conditions. ClinVar contains an entry for this variant (Variation ID: 445473). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV003362807 SCV004071764 uncertain significance Inborn genetic diseases 2023-08-02 criteria provided, single submitter clinical testing The c.1879G>A (p.A627T) alteration is located in exon 14 (coding exon 13) of the BRAT1 gene. This alteration results from a G to A substitution at nucleotide position 1879, causing the alanine (A) at amino acid position 627 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.