ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.881C>G (p.Ser294Ter) (rs752683070)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000190584 SCV000245608 pathogenic Retinitis pigmentosa 25 2014-12-15 criteria provided, single submitter clinical testing The p.Ser294X variant in EYS has not been previously reported in individuals with retinitis pigmentosa but has been identified in 0.038% (4/10520) of African chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org). Although this variant has been seen in the general population, its frequency is low enough to be consistent with a recessive carrier frequency. This nonsense variant leads to a premature termination codon at position 294, which is predicted to lead to a truncated or absent protein. Complete loss of EYS function is an established disease mechanism in individuals with autosomal recessive retinitis pigmentosa. In summary, this variant meets our criteria to be classified as pathogenic for retinitis pigmentosa in an autosomal recessive manner.
Invitae RCV001069674 SCV001234860 pathogenic not provided 2019-12-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser294*) in the EYS gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs752683070, ExAC 0.04%). This variant has not been reported in the literature in individuals with EYS-related conditions. ClinVar contains an entry for this variant (Variation ID: 208579). Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). For these reasons, this variant has been classified as Pathogenic.
Blueprint Genetics RCV001074844 SCV001240445 likely pathogenic Retinal dystrophy 2019-07-24 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.