ClinVar Miner

Submissions for variant NM_152743.4(BRAT1):c.2377G>A (p.Asp793Asn)

gnomAD frequency: 0.00001  dbSNP: rs759036645
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 RCV000650090 SCV000771927 uncertain significance Neonatal-onset encephalopathy with rigidity and seizures 2022-09-07 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 793 of the BRAT1 protein (p.Asp793Asn). This variant is present in population databases (rs759036645, gnomAD 0.007%). 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: 540149). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
GeneDx RCV001592813 SCV001814649 likely benign not provided 2019-12-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002531948 SCV003589225 uncertain significance Inborn genetic diseases 2021-11-29 criteria provided, single submitter clinical testing The c.2377G>A (p.D793N) 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 2377, causing the aspartic acid (D) at amino acid position 793 to be replaced by an asparagine (N). 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.