ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.8740C>T (p.Arg2914Ter) (rs766590491)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666615 SCV000790935 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-04-14 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000213731 SCV000271475 pathogenic Rare genetic deafness 2015-04-24 criteria provided, single submitter clinical testing The p.Arg2914X variant in USH2A has been previously reported in 4 individuals wi th Usher syndrome (Baux 2014, McGee 2010) and 1 individual with retinitis pigmen tosa (RP) (Zhao 2015), however hearing loss was not evaluated in the latter. At least 4 of these individuals were compound heterozygous for a second pathogenic variant in USH2A. This variant has been identified in 1/66678 European chromoso mes by the Exome Aggregation Consortium (ExAC,, though this frequency is low enough to be consistent with a recessive carrier fr equency. This nonsense variant leads to a premature termination codon at positio n 2914, which is predicted to lead to a truncated or absent protein. Loss of fun ction of the USH2A gene is an established disease mechanism in Usher syndrome. I n summary, the p.Arg2914X variant in USH2A meets our criteria to be classified a s pathogenic for autosomal recessive Usher syndrome based upon the predicted imp act to the protein and the previously reported individuals with Usher syndrome (

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.