ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.508A>G (p.Arg170Gly)

dbSNP: rs2039865673
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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 RCV001911946 SCV002143334 uncertain significance Dystonia 5; GTP cyclohydrolase I deficiency 2021-08-17 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. This variant has not been reported in the literature in individuals affected with GCH1-related conditions. This sequence change replaces arginine with glycine at codon 170 of the GCH1 protein (p.Arg170Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine.

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