Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV003062203 | SCV003440883 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-05-18 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg123 amino acid residue in GALT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 9222760). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. ClinVar contains an entry for this variant (Variation ID: 2136755). This missense change has been observed in individual(s) with galactosemia (PMID: 11397328). This variant is present in population databases (rs111033675, gnomAD 0.007%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 123 of the GALT protein (p.Arg123Gln). |
| Baylor Genetics | RCV003062203 | SCV004198532 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-07-02 | criteria provided, single submitter | clinical testing |