ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3812-2A>G

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
Molecular Genetics Laboratory,Institute for Ophthalmic Research RCV001199581 SCV001162752 pathogenic Retinitis pigmentosa 2020-01-09 criteria provided, single submitter research
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092378 SCV001248854 pathogenic not provided 2019-02-01 criteria provided, single submitter clinical testing
Invitae RCV001092378 SCV001576521 likely pathogenic not provided 2020-02-28 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 17 of the USH2A gene. It is expected to disrupt RNA splicing and likely results in an absent or disrupted protein product. This variant is present in population databases (rs758733024, ExAC 0.002%). This variant has not been reported in the literature in individuals with USH2A-related conditions. 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). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely 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.