ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.100C>T (p.Arg34Ter) (rs772808534)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673031 SCV000798196 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-03-01 criteria provided, single submitter clinical testing
Invitae RCV001039961 SCV001203513 pathogenic not provided 2020-07-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg34*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs772808534, ExAC 0.002%). This variant has been observed in several individuals affected with Usher syndrome or retinitis pigmentosa (PMID: 10909849, 15823922, 28041643). ClinVar contains an entry for this variant (Variation ID: 438000). 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.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001039961 SCV001447949 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376313 SCV001573415 likely pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.100C>T variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PVS1, PM2. Based on this evidence we have classified this variant as Likely Pathogenic.
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504668 SCV000598760 pathogenic Retinitis pigmentosa 2015-01-01 no assertion criteria provided research
Natera, Inc. RCV001273815 SCV001457335 pathogenic Usher syndrome, type 2A 2020-09-16 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.