Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000022228 | SCV000800487 | uncertain significance | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2016-12-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000022228 | SCV002124692 | pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-10-28 | criteria provided, single submitter | clinical testing | This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 295 of the GALT protein (p.Pro295Thr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with galactosemia (PMID: 25052314, 30172461; Invitae). ClinVar contains an entry for this variant (Variation ID: 25285). 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: 30172461). For these reasons, this variant has been classified as Pathogenic. |
Mayo Clinic Laboratories, |
RCV002254269 | SCV002525792 | pathogenic | not provided | 2021-07-15 | criteria provided, single submitter | clinical testing | PS3, PM3_strong, PS4_moderate, PM2, PP3, PP4 |
Baylor Genetics | RCV000022228 | SCV004198505 | likely pathogenic | Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase | 2023-10-06 | criteria provided, single submitter | clinical testing |