Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000796541 | SCV000936060 | uncertain significance | Neonatal-onset encephalopathy with rigidity and seizures | 2022-08-23 | criteria provided, single submitter | clinical testing | This variant, c.597_598delinsTT, is a complex sequence change that results in the deletion of 2 and insertion of 2 amino acid(s) in the BRAT1 protein (p.Met199_Asp200delinsIleTyr). Information on the frequency of this variant in the gnomAD database is not available, as this variant may be reported differently in the database. 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: 642966). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 |
RCV001759507 | SCV001987473 | uncertain significance | not provided | 2019-06-04 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |