ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.7868G>A (p.Gly2623Glu)

gnomAD frequency: 0.00001  dbSNP: rs559824825
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
Counsyl RCV000672988 SCV000798150 uncertain significance Retinitis pigmentosa 25 2018-02-27 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000779515 SCV000916159 uncertain significance Retinitis pigmentosa 2017-10-13 criteria provided, single submitter clinical testing The EYS c.7868G>A (p.Gly2623Glu) missense variant has been reported in two studies in which it is found in a total of four individuals affected with retinitis pigmentosa in a compound heterozygous state with a second missense variant, of whom three are siblings and one is a sporadic case, (Di et al. 2016; Wang et al. 2017). The variant has also been found in a heterozygous state in three unaffected members of the family with the affected siblings. The p.Gly2623Glu variant was absent from 1000 ethnically matched controls but is reported at a frequency of 0.004908 in the South Asian population of the Genome Aggregation Database. The Gly2623 residue is conserved, with the p.Gly2623Glu variant lying in a region of disulphide bond modification which may affect the formation of disulphide bonds, thereby impairing EYS protein function (Di et al. 2016). Based on the evidence, the p.Gly2623Glu variant is classified as a variant of unknown significance but suspicious for pathogenicity for the recessive form of retinitis pigmentosa. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population.
Invitae RCV000926124 SCV001071684 likely benign not provided 2024-01-28 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000672988 SCV001786756 uncertain significance Retinitis pigmentosa 25 2021-07-14 criteria provided, single submitter clinical testing
Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India RCV000672988 SCV002587818 uncertain significance Retinitis pigmentosa 25 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.