ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.2168-2A>G (rs993185407)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000672583 SCV000797698 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-02-06 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000672583 SCV000893289 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-10-31 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073756 SCV001239316 likely pathogenic Retinal dystrophy 2017-11-29 criteria provided, single submitter clinical testing
Invitae RCV001382734 SCV001581637 pathogenic not provided 2020-07-10 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 12 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). This variant has been observed in individual(s) with clinical features of Usher syndrome (Invitae). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 556562). 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.
National Institute on Deafness and Communication Disorders,National Institutes of Health RCV001199965 SCV001370762 pathogenic Usher syndrome, type 2A 2019-12-10 no assertion criteria provided research

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.