Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001033322 | SCV001196629 | pathogenic | Dystonia 5; GTP cyclohydrolase I deficiency | 2019-07-22 | criteria provided, single submitter | clinical testing | This variant is an out-of-frame deletion of the genomic region encompassing exons 2-3 of the GCH1 gene. This is expected to create a premature translational stop signal and result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with GCH1-related conditions. Loss-of-function variants in GCH1 are known to be pathogenic (PMID: 19491146). For these reasons, this variant has been classified as Pathogenic. |