ClinVar Miner

Submissions for variant NM_000161.3(GCH1):c.328C>G (p.Gln110Glu)

gnomAD frequency: 0.00009  dbSNP: rs748944982
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000513209 SCV000608702 uncertain significance not provided 2023-04-01 criteria provided, single submitter clinical testing GCH1: PM1
Invitae RCV001063206 SCV001228042 uncertain significance Dystonia 5; GTP cyclohydrolase I deficiency 2022-10-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 110 of the GCH1 protein (p.Gln110Glu). This variant is present in population databases (rs748944982, gnomAD 0.02%). This missense change has been observed in individual(s) with Parkinson's disease (PMID: 24993959). ClinVar contains an entry for this variant (Variation ID: 444330). 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.
Fulgent Genetics, Fulgent Genetics RCV002481651 SCV002787376 uncertain significance Dystonia 5; GTP cyclohydrolase I deficiency with hyperphenylalaninemia 2021-08-11 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000513209 SCV003814500 uncertain significance not provided 2019-07-19 criteria provided, single submitter clinical testing
GeneDx RCV000513209 SCV004036828 uncertain significance not provided 2023-09-18 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 32740907, 24993959)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.