ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.163G>A (p.Gly55Ser)

dbSNP: rs2140127419
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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 RCV001895867 SCV002153222 uncertain significance Dystonia 5; GTP cyclohydrolase I deficiency 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces glycine with serine at codon 55 of the GCH1 protein (p.Gly55Ser). The glycine residue is weakly conserved and there is a small physicochemical difference between glycine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with GCH1-related conditions. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt GCH1 protein function. 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.

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