Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215068 | SCV001386789 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2019-06-18 | criteria provided, single submitter | clinical testing | 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. This variant has not been reported in the literature in individuals with BRAT1-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change results in a frameshift in the BRAT1 gene (p.Asp816Thrfs*65). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 6 amino acids of the BRAT1 protein and extend the protein by an additional 58 amino acids. |