ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.2981del (p.Pro994fs)

dbSNP: rs1583260302
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mendelics RCV000987729 SCV001137166 pathogenic Retinitis pigmentosa 25 2019-05-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001038829 SCV001202327 pathogenic not provided 2023-07-07 criteria provided, single submitter clinical testing This premature translational stop signal has been observed in individual(s) with clinical features of retinitis pigmentosa (PMID: 30902645). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Pro994Leufs*10) 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). ClinVar contains an entry for this variant (Variation ID: 802237). For these reasons, this variant has been classified as Pathogenic.

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.