Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794859 | SCV000934292 | pathogenic | Dystonia 5; GTP cyclohydrolase I deficiency | 2018-11-08 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with GCH1-related disease. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in GCH1 are known to be pathogenic (PMID: 19491146). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ala44Glyfs*22) in the GCH1 gene. It is expected to result in an absent or disrupted protein product. |