ClinVar Miner

Submissions for variant NM_206933.4(USH2A):c.3883C>T (p.Arg1295Ter)

gnomAD frequency: 0.00001  dbSNP: rs764797292
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 RCV000672888 SCV000798038 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2018-02-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001047995 SCV001211984 pathogenic not provided 2024-01-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1295*) 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). This variant is present in population databases (rs764797292, gnomAD 0.002%). This premature translational stop signal has been observed in individuals with Usher syndrome (PMID: 10909849, 22004887, 24160897). ClinVar contains an entry for this variant (Variation ID: 556829). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
SN ONGC Dept of Genetics and Molecular biology Vision Research Foundation RCV003389479 SCV003927075 pathogenic Usher syndrome 2022-12-31 criteria provided, single submitter research
Genome-Nilou Lab RCV003453359 SCV004182300 pathogenic Retinitis pigmentosa 39 2023-11-04 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV001271229 SCV004182301 pathogenic Usher syndrome type 2A 2023-11-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003453359 SCV004208297 pathogenic Retinitis pigmentosa 39 2023-11-14 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000672888 SCV005638385 pathogenic Usher syndrome type 2A; Retinitis pigmentosa 39 2024-05-22 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271229 SCV001452237 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.