ClinVar Miner

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

dbSNP: rs755556239
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Total submissions: 2
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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 2019-11-08 criteria provided, single submitter clinical testing 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 has been observed in individual(s) with clinical features of GCH1-related dystonia (PMID: 20187889). This variant is not present in population databases (ExAC no frequency). 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.
3billion RCV002250735 SCV002521279 pathogenic Dystonia 5 2022-05-22 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant. The variant has been reported to be associated with GCH1 related disorder (ClinVar ID: VCV000958404 / PMID: 20187889 / 3billion dataset). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline.

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