ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.883C>A (p.Pro295Thr)

gnomAD frequency: 0.00001  dbSNP: rs111033783
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
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, Mayo Clinic 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

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.