ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2653C>T (p.His885Tyr) (rs746071929)

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 RCV000665157 SCV000789226 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-24 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000778220 SCV000914386 uncertain significance Retinitis pigmentosa 2019-01-10 criteria provided, single submitter clinical testing The USH2A c.2653C>T (p.His885Tyr) missense variant has been reported in two studies in which it is found in a total of three individuals with retinitis pigmentosa. The variant was identified in two of these individuals in a compound heterozygous state with a second splice site variant (Xu et al. 2014). The third individual carried two previously reported missense variants in addition to the p.His885Tyr variant, the phase of which were not given (Oishi et al. 2014). The p.His885Tyr variant was absent from 96 controls but is reported at a frequency of 0.00081 in the East Asian population of the Exome Aggregation Consortium. Based on the evidence, the USH2 p.His885Tyr variant is classified as a variant of unknown significance but suspicious for pathogenicity for autosomal recessive retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.

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.