ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.1A>G (p.Met1Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000796195 SCV000935699 pathogenic Dystonia 5, Dopa-responsive type; GTP cyclohydrolase I deficiency 2018-11-20 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the GCH1 mRNA. The next in-frame methionine is located at codon 102. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate insufficient coverage at this position in the ExAC database. This variant has been observed in several individuals affected with dopamine-responsive dystonia and was observed to segregate with disease in a family (PMID: 22373569, Invitae). Disruptions of the initiator codon (c.1A>T, c.2T>C, c.3G>A, c.3G>C) have been observed in individuals affected with dopamine-responsive dystonia (PMID: 21935284, 9576537, 20437540, 17557242). For these reasons, this variant has been classified as Pathogenic.

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