ClinVar Miner

Submissions for variant NM_001142800.2(EYS):c.5928-3_5928-1del

dbSNP: rs1554152094
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
Invitae RCV001857220 SCV002238312 pathogenic not provided 2022-06-13 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 438201). Disruption of this splice site has been observed in individuals with retinitis pigmentosa (PMID: 28041643, 28704921, 31074760). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 28 of the EYS gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in EYS are known to be pathogenic (PMID: 18836446, 20333770).
NIHR Bioresource Rare Diseases, University of Cambridge RCV000505007 SCV000599157 likely pathogenic Retinitis pigmentosa 2015-01-01 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.