Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001337620 | SCV001531228 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2022-03-18 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1034839). 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with BRAT1-related conditions. This variant is present in population databases (rs778863570, gnomAD 0.009%). This sequence change replaces aspartic acid, which is acidic and polar, with histidine, which is basic and polar, at codon 710 of the BRAT1 protein (p.Asp710His). |