Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001232172 | SCV001404718 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2023-04-24 | criteria provided, single submitter | clinical testing | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt BRAT1 protein function. ClinVar contains an entry for this variant (Variation ID: 958915). This variant has not been reported in the literature in individuals affected with BRAT1-related conditions. This variant is present in population databases (rs144085416, gnomAD 0.003%). This sequence change replaces aspartic acid, which is acidic and polar, with glutamic acid, which is acidic and polar, at codon 766 of the BRAT1 protein (p.Asp766Glu). |
| Ce |
RCV003222268 | SCV003917132 | uncertain significance | not provided | 2023-03-01 | criteria provided, single submitter | clinical testing | BRAT1: PM2, BP4 |
| Ambry Genetics | RCV003294107 | SCV003990310 | uncertain significance | Inborn genetic diseases | 2023-04-18 | criteria provided, single submitter | clinical testing | The c.2298C>A (p.D766E) alteration is located in exon 14 (coding exon 13) of the BRAT1 gene. This alteration results from a C to A substitution at nucleotide position 2298, causing the aspartic acid (D) at amino acid position 766 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |