ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.1666dup (p.Ile556fs) (rs727503855)

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
UW Hindbrain Malformation Research Program,University of Washington RCV000201724 SCV000256370 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Mendelics RCV000988887 SCV001138785 pathogenic Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV001236913 SCV001409654 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2020-09-21 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile556Asnfs*20) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs769761100, ExAC 1.2%). This variant has been observed in individuals affected with Leber congenital amaurosis or Joubert syndrome (PMID: 23847139, 26092869, 29146704). ClinVar contains an entry for this variant (Variation ID: 217623). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115, 25377065, 28559085). 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.