ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1140A>C (p.Ter380Cys)

dbSNP: rs111033827
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
Counsyl RCV000022282 SCV000800077 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2018-05-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022282 SCV004294305 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-02-21 criteria provided, single submitter clinical testing This sequence change disrupts the translational stop signal of the GALT mRNA. It is expected to extend the length of the GALT protein by 49 additional amino acid residues. This variant is not present in population databases (gnomAD no frequency). This protein extension has been observed in individual(s) with galactosemia (PMID: 15841485, 28065439). ClinVar contains an entry for this variant (Variation ID: 25336). This variant results in an extension of the GALT protein. Other variant(s) that result in a similarly extended protein product (p.*380Argext*49) have been determined to be pathogenic (PMID: 10649501, 15633893, 20213376, 34030713). This suggests that these extensions 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.