ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.8545C>T (p.Arg2849Ter)

gnomAD frequency: 0.00001  dbSNP: rs1326635278
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
GeneDx RCV000597091 SCV000709699 likely pathogenic not provided 2017-09-07 criteria provided, single submitter clinical testing The R2870X nonsense variant in the EYS gene has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It is predicted to cause loss of normal protein function through protein truncation. The variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). In summary, we consider this variant to be likely pathogenic.
Invitae RCV000597091 SCV000959359 pathogenic not provided 2023-11-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg2849*) in the EYS gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 296 amino acid(s) of the EYS protein. This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 503517). This variant disrupts a region of the EYS protein in which other variant(s) (p.Tyr2935*) have been determined to be pathogenic (PMID: 22363543, 24652164, 28763560). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV002248812 SCV002519632 pathogenic Retinitis pigmentosa 25 2022-05-04 criteria provided, single submitter clinical testing
Dept Of Ophthalmology, Nagoya University RCV003889932 SCV004707398 uncertain significance Retinal dystrophy 2023-10-01 criteria provided, single submitter research
Baylor Genetics RCV002248812 SCV005060480 pathogenic Retinitis pigmentosa 25 2024-02-14 criteria provided, single submitter 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.