ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.1057C>T (p.Gln353Ter)

dbSNP: rs111033818
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000022271 SCV001163255 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-12-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022271 SCV003440786 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2024-05-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln353*) in the GALT gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 27 amino acid(s) of the GALT protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with galactose-1-phosphate uridylyltransferase deficiency (PMID: 17486650). ClinVar contains an entry for this variant (Variation ID: 25325). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This variant disrupts a region of the GALT protein in which other variant(s) (p.Glu363Lys) have been determined to be pathogenic (PMID: 21150919, 30718057). 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.
Counsyl RCV000022271 SCV000485672 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2016-01-25 no assertion criteria provided clinical testing This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com.

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.