Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002254556 | SCV000756295 | pathogenic | Sulfite oxidase deficiency | 2017-08-21 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with SUOX-related disease. For these reasons, this variant has been classified as Pathogenic. A different truncation downstream of this variant (p.Tyr400*) has been determined to be pathogenic (PMID: 12112661, 23994568, 24938149, 28629418). This suggests that deletion of this region of the SUOX protein is causative of disease. This variant is not present in population databases (ExAC no frequency). This sequence change results in a premature translational stop signal in the SUOX gene (p.Pro122Alafs*29). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 424 amino acids (80%) of the SUOX protein. |