ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8167C>T (p.Arg2723Ter) (rs200712760)

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
GeneDx RCV000485043 SCV000566980 pathogenic not provided 2017-09-18 criteria provided, single submitter clinical testing The R2723X nonsense variant in the USH2A gene has been reported previously in association with USH2A-related disorders (McGee et al., 2010; Sandberg et al, 2008; Jaijo et al. 2010). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. Given the available evidence, we interpret R2723X as a pathogenic variant.
Counsyl RCV000984316 SCV001132501 pathogenic Usher syndrome, type 2A 2017-10-25 no assertion criteria provided clinical testing
Counsyl RCV000984317 SCV001132502 pathogenic Retinitis pigmentosa 39 2017-10-25 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.