Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000650119 | SCV000771956 | pathogenic | Neonatal-onset encephalopathy with rigidity and seizures | 2018-11-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in BRAT1 are known to be pathogenic (PMID: 22279524, 25500575). This variant has not been reported in the literature in individuals with BRAT1-related disease. ClinVar contains an entry for this variant (Variation ID: 540176). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Glu515Serfs*4) in the BRAT1 gene. It is expected to result in an absent or disrupted protein product. |