ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2854del (p.Cys952fs)

dbSNP: rs779877426
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
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001731169 SCV001981606 pathogenic Retinitis pigmentosa 2021-10-20 criteria provided, single submitter clinical testing additional variant: c.9053T>G, p.Leu3018Trp, classified as VUS
Labcorp Genetics (formerly Invitae), Labcorp RCV005094909 SCV005781739 pathogenic not provided 2025-01-16 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys952Valfs*16) in the EYS gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This premature translational stop signal has been observed in individual(s) with autosomal recessive retinitis pigmentosa (PMID: 37734845). ClinVar contains an entry for this variant (Variation ID: 1300173). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics, Univ. Regensburg, Univ. Regensburg RCV004815611 SCV005069139 pathogenic Retinal dystrophy 2015-01-01 no assertion criteria provided 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.