Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000702539 | SCV000831397 | pathogenic | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2018-05-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. A different truncation (p.Asp207Thrfs*16) that lies downstream of this variant has been determined to be pathogenic (Invitae). This suggests that deletion of this region of the PURA protein is causative of disease. This variant has not been reported in the literature in individuals with PURA-related disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the PURA gene (p.Gln128Profs*73). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 196 amino acids of the PURA protein. |