ClinVar Miner

Submissions for variant NM_206933.3(USH2A):c.7475C>T (p.Ser2492Leu) (rs483353056)

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
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000373313 SCV000340407 uncertain significance not provided 2016-03-16 criteria provided, single submitter clinical testing
Counsyl RCV000670917 SCV000795833 uncertain significance Usher syndrome, type 2A; Retinitis pigmentosa 39 2017-11-20 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000826074 SCV000967569 uncertain significance not specified 2018-10-23 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Ser2492Leu va riant in USH2A has been reported in 1 individual with retinitis pigmentosa who a lso harbored the p.Glu767fs pathogenic variant; however, the phasing of these va riants was not determined (Carss 2017). This variant has also been identified in 0.005% (1/19894) of East Asian chromosomes and 0.003% (4/128566) of European ch romosomes by gnomAD ( Serine (Ser) at position 2492 is poorly conserved across species, with three mammals (rat, naked mole ra t, and Bactrian camel) carrying a leucine (Leu) at this position. In addition, c omputational prediction tools and conservation analysis suggest that this varian t may not impact the protein, though this information is not predictive enough t o rule out pathogenicity. In summary, although the clinical significance of the p.Ser2492Leu variant is uncertain, the lack of conservation suggests it is more likely to be benign. ACMG/AMP Criteria applied: PM2, PM3_Supporting, BP4_Strong.
Blueprint Genetics RCV001073464 SCV001239006 uncertain significance Retinal dystrophy 2019-03-08 criteria provided, single submitter clinical testing
NIHR Bioresource Rare Diseases, University of Cambridge RCV000504866 SCV000598827 uncertain significance Retinitis pigmentosa 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.