ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.13811+1G>A (rs1177257719)

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
Counsyl RCV000672985 SCV000798147 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-02-27 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073725 SCV001239284 likely pathogenic Retinal dystrophy 2017-09-01 criteria provided, single submitter clinical testing
Invitae RCV001231260 SCV001403774 pathogenic not provided 2019-09-30 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 63 of the USH2A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). Disruption of this splice site has been observed in individuals affected with retinitis pigmentosa or Usher syndrome (PMID: 24938718, 24498627). ClinVar contains an entry for this variant (Variation ID: 556918). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site, but this prediction has not been confirmed by published transcriptional studies. Donor and acceptor splice site variants typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381). For these reasons, this variant has been classified 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.