ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.13C>G (p.Pro5Ala)

dbSNP: rs2040587976
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001208688 SCV001380091 uncertain significance Dystonia 5; GTP cyclohydrolase I deficiency 2019-05-18 criteria provided, single submitter clinical testing 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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. This variant has not been reported in the literature in individuals with GCH1-related conditions. 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 sequence change replaces proline with alanine at codon 5 of the GCH1 protein (p.Pro5Ala). The proline residue is weakly conserved and there is a small physicochemical difference between proline and alanine.

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