Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000696612 | SCV000825178 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2024-01-03 | 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 347 of the BRAT1 protein (p.Asp347Asn). This variant is present in population databases (rs144499760, gnomAD 0.01%). This missense change has been observed in individual(s) with atypical Rolandic epilepsy (PMID: 32600977). ClinVar contains an entry for this variant (Variation ID: 574629). 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 with a negative predictive value of 80%. 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. |
| Gene |
RCV001568161 | SCV001791985 | uncertain significance | not provided | 2021-11-09 | criteria provided, single submitter | clinical testing | Not observed at a significant frequency in large population cohorts (Lek et al., 2016); 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 |
| Greenwood Genetic Center Diagnostic Laboratories, |
RCV001568161 | SCV002061518 | uncertain significance | not provided | 2021-08-12 | criteria provided, single submitter | clinical testing | BP4, PM2 |