Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000695350 | SCV000823845 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2022-10-25 | 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 568 of the BRAT1 protein (p.Ala568Thr). This variant is present in population databases (rs141709461, gnomAD 0.005%). 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: 573632). 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 | RCV001288812 | SCV001476178 | uncertain significance | not provided | 2020-07-24 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV004965682 | SCV005548506 | uncertain significance | Inborn genetic diseases | 2024-06-25 | criteria provided, single submitter | clinical testing | The c.1702G>A (p.A568T) alteration is located in exon 13 (coding exon 12) of the BRAT1 gene. This alteration results from a G to A substitution at nucleotide position 1702, causing the alanine (A) at amino acid position 568 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |
Department of Clinical Pathology, |
RCV004559617 | SCV004218235 | likely benign | EBV-positive nodal T- and NK-cell lymphoma | no assertion criteria provided | research |