Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002628891 | SCV003516074 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2022-01-07 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 268 of the GALT protein (p.Thr268Asn). This variant is present in population databases (rs111033847, gnomAD 0.004%). This missense change has been observed in individual(s) with clinical features of GALT-related conditions (PMID: 18210213). 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. 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. |