ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.12093C>A (p.Tyr4031Ter) (rs55921307)

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
GeneDx RCV000657930 SCV000779699 pathogenic not provided 2018-05-18 criteria provided, single submitter clinical testing The Y4031X variant in the USH2A gene has been reported previously in an individual with retinal disease and nyctalopia who also harbored a second USH2A variant (Lenassi et al., 2015). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Y4031X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Y4031X as a pathogenic variant.

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.