ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.10561T>C (p.Trp3521Arg) (rs111033264)

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
Broad Institute Rare Disease Group,Broad Institute RCV000041673 SCV000693910 pathogenic Usher syndrome, type 2A 2017-06-25 criteria provided, single submitter research
Counsyl RCV000665210 SCV000789287 likely pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-01-17 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000824783 SCV000065369 pathogenic Rare genetic deafness 2015-03-03 criteria provided, single submitter clinical testing The p.Trp3521Arg variant in USH2A has been reported in at least 10 individuals w ith Usher syndrome (Dreyer 2008, McGee 2010, Le Quesne Stabej 2012, Glockle 2014 ). At least 4 of these individuals were reported to carry another pathogenic USH 2A variant in trans (Le Quesne Stabej 2012). This variant has also been identifi ed by our laboratory in 3 Caucasian individuals with Usher syndrome, all of whom carried a second, loss-of-function variant in the USH2A gene. The Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org) has identified this varia nt in 2/66552 European chromosomes (dbSNP rs111033264). Although this variant ha s been seen in the general population, its frequency is low enough to be consist ent with a recessive carrier frequency. Computational prediction tools and conse rvation analysis suggest that the variant may impact the protein. In summary, th e p.Trp3521Arg variant meets our criteria to be classified as pathogenic for Ush er syndrome in an autosomal recessive manner (http://pcpgmwww.partners.org/perso nalizedmedicince/LMM).
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000504880 SCV000926711 pathogenic Usher syndrome 2018-04-01 no assertion criteria provided research
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504880 SCV000598764 likely pathogenic Usher syndrome 2015-01-01 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.