ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.49del (p.Arg17fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003059651 SCV003354187 pathogenic Dystonia 5; GTP cyclohydrolase I deficiency 2022-08-08 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with GCH1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg17Glyfs*50) in the GCH1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GCH1 are known to be pathogenic (PMID: 9667588, 19332422, 19491146, 25557619).

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