ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.250G>T (p.Glu84Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001231564 SCV001404091 pathogenic Dystonia 5; GTP cyclohydrolase I deficiency 2019-11-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu84*) in the GCH1 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with clinical features of GCH1-related dystonia (PMID: 20187889). Loss-of-function variants in GCH1 are known to be pathogenic (PMID: 19491146). For these reasons, this variant has been classified as Pathogenic.

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