Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000700739 | SCV000829508 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2022-10-25 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 363 of the BRAT1 protein (p.Gly363Ser). This variant is present in population databases (no rsID available, gnomAD 0.003%). This missense change has been observed in individual(s) with clinical features of BRAT1-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 577883). 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. 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 | RCV000991582 | SCV001143165 | uncertain significance | not provided | 2018-12-04 | criteria provided, single submitter | clinical testing | |
| Ambry Genetics | RCV002533599 | SCV003738708 | uncertain significance | Inborn genetic diseases | 2022-09-27 | criteria provided, single submitter | clinical testing | The c.1087G>A (p.G363S) alteration is located in exon 8 (coding exon 7) of the BRAT1 gene. This alteration results from a G to A substitution at nucleotide position 1087, causing the glycine (G) at amino acid position 363 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
| Gene |
RCV000991582 | SCV004030525 | uncertain significance | not provided | 2023-02-24 | criteria provided, single submitter | clinical testing | Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |