Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000409875 | SCV000486625 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2016-07-20 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000409875 | SCV003441370 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2022-02-02 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Val168 amino acid residue in GALT. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 22461411, 24045215). 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: 371128). This missense change has been observed in individuals with galactosemia (PMID: 22944367, 28173647). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 168 of the GALT protein (p.Val168Met). |