ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.2T>C (p.Met1Thr)

dbSNP: rs771702963
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000988176 SCV001137800 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000988176 SCV004294290 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-11-22 criteria provided, single submitter clinical testing This sequence change affects the initiator methionine of the GALT mRNA. The next in-frame methionine is located at codon 49. This variant is not present in population databases (gnomAD no frequency). Disruption of the initiator codon has been observed in individual(s) with galactosemia (PMID: 27176039). ClinVar contains an entry for this variant (Variation ID: 802479). This variant disrupts a region of the GALT protein in which other variant(s) (p.Gln38Pro) have been determined to be pathogenic (PMID: 9222760, 25268296). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.

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.