ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.2073C>A (p.Cys691Ter) (rs376674482)

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 RCV001007965 SCV001167693 pathogenic not provided 2019-03-20 criteria provided, single submitter clinical testing The C691X nonsense variant has been observed previously with other heterozygous USH2A variants in patients with USH2A-related disorders (Sandberg et al., 2008; Neuhaus et al., 2017). The variant is not observed in large population cohorts (Lek et al., 2016). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. We interpret this variant as pathogenic.

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.