ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.6862G>T (p.Glu2288Ter) (rs398124619)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000760348 SCV000331481 pathogenic not provided 2013-08-27 criteria provided, single submitter clinical testing
Counsyl RCV000675016 SCV000800443 pathogenic Usher syndrome, type 2A; Retinitis pigmentosa 39 2018-06-07 criteria provided, single submitter clinical testing
GeneDx RCV000760348 SCV000890208 pathogenic not provided 2018-08-01 criteria provided, single submitter clinical testing The E2288X variant in the USH2A gene has been reported previously in association with autosomal recessive Usher syndrome type II (Yan et al., 20009; Steel-Stallard et al., 2013). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The E2288X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret E2288X as a pathogenic variant.
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals RCV001002688 SCV001156367 pathogenic Usher syndrome, type 2A 2019-02-01 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075205 SCV001240819 pathogenic Retinal dystrophy 2018-11-15 criteria provided, single submitter clinical testing
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376458 SCV001573606 pathogenic Retinitis pigmentosa 39 2021-04-08 criteria provided, single submitter research The USH2A c.6862G>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, PM3, PP3. Based on this evidence we have classified this variant as Pathogenic.
Invitae RCV000760348 SCV001583717 pathogenic not provided 2020-07-22 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu2288*) in the USH2A gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Usher syndrome type II (PMID: 19881469, 23924366, 22135276). ClinVar contains an entry for this variant (Variation ID: 96666). 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.

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.