Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794516 | SCV000933928 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2018-12-20 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with BRAT1-related conditions. This sequence change replaces glutamine with leucine at codon 629 of the BRAT1 protein (p.Gln629Leu). The glutamine residue is weakly conserved and there is a moderate physicochemical difference between glutamine and leucine. |