ClinVar Miner

Submissions for variant NM_000155.4(GALT):c.564+1G>A

dbSNP: rs111033723
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000022151 SCV000790462 likely pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2017-03-21 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000729821 SCV000857512 pathogenic not provided 2017-10-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000022151 SCV001214301 pathogenic Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase 2023-12-25 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 6 of the GALT gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GALT are known to be pathogenic (PMID: 22944367). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with galactosemia (PMID: 22944367). ClinVar contains an entry for this variant (Variation ID: 25215). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Mayo Clinic Laboratories, Mayo Clinic RCV000729821 SCV004226592 pathogenic not provided 2023-05-23 criteria provided, single submitter clinical testing PP4, PM2, PM3, PS4_moderate, PVS1_strong
Natera, Inc. RCV001271240 SCV001452284 pathogenic Galactosemia 2020-09-16 no assertion criteria provided 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.