ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.8079G>A (p.Trp2693Ter)

dbSNP: rs1553273330
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 8
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669141 SCV000793857 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2017-09-11 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001073245 SCV001238781 pathogenic Retinal dystrophy 2018-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001389152 SCV001590418 pathogenic not provided 2022-04-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 553648). This premature translational stop signal has been observed in individual(s) with Usher syndrome and inherited retinal disease (PMID: 26927203, 27160483). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp2693*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in USH2A are known to be pathogenic (PMID: 10729113, 10909849, 20507924, 25649381).
Genome-Nilou Lab RCV003453281 SCV004182849 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV003453280 SCV004182850 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Clinical Genetics, Academic Medical Center RCV001389152 SCV001920103 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001389152 SCV001957410 pathogenic not provided no assertion criteria provided clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center RCV001389152 SCV001964742 pathogenic not provided no assertion criteria provided clinical testing

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.