Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
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, |
RCV002481651 | SCV002787376 | uncertain significance | Dystonia 5; GTP cyclohydrolase I deficiency with hyperphenylalaninemia | 2021-08-11 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV000513209 | SCV003814500 | uncertain significance | not provided | 2019-07-19 | criteria provided, single submitter | clinical testing | |
Gene |
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) |