ClinVar Miner

Submissions for variant NM_145649.5(GCNT2):c.14G>A (p.Trp5Ter)

gnomAD frequency: 0.00023  dbSNP: rs185805779
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
School of Computer Science, University of Waterloo RCV001376182 SCV001573233 pathogenic Cataract 13 with adult I phenotype 2021-05-06 criteria provided, single submitter clinical testing Evidence categories PVS1, PM2 and PM4 in ACMG guidelines. This stop-gained variant in gene GCNT2 leads to a premature termination codon NP_001361676.1:p.Trp5Ter and disrupts the whole protein.

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.