Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002002946 | SCV002268631 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2024-01-09 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with serine, which is neutral and polar, at codon 223 of the GALT protein (p.Arg223Ser). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with galactose-1-phosphate uridylyltransferase deficiency (PMID: 17876724). ClinVar contains an entry for this variant (Variation ID: 1482501). 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 expected to disrupt GALT protein function with a positive predictive value of 95%. Experimental studies have shown that this missense change affects GALT function (PMID: 22461411). This variant disrupts the p.Arg223 amino acid residue in GALT. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV002002946 | SCV004198491 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-10-29 | criteria provided, single submitter | clinical testing |