ClinVar Miner

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

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
UW Hindbrain Malformation Research Program,University of Washington RCV000201771 SCV000256368 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Invitae RCV000697843 SCV000826475 pathogenic Joubert syndrome; Meckel-Gruber syndrome; Nephronophthisis 2018-04-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile556Phefs*17) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has been reported to segregate with Joubert syndrome in several families (PMID: 26092869) and has also been reported in sporadic cases affected with this condition (PMID: 27491411, 26047050).ClinVar contains an entry for this variant (Variation ID: 217622). Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). For these reasons, this variant has been classified as Pathogenic.
Mendelics RCV000988888 SCV001138786 pathogenic Joubert syndrome 1 2019-05-28 criteria provided, single submitter clinical testing
Blueprint Genetics RCV001075310 SCV001240928 pathogenic Retinal dystrophy 2017-12-29 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268720 SCV001447853 pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
Sharon lab,Hadassah-Hebrew University Medical Center RCV001002938 SCV001160973 pathogenic Leber congenital amaurosis 2019-06-23 no assertion criteria provided research
Natera, Inc. RCV001002938 SCV001457923 pathogenic Leber congenital amaurosis 2020-09-16 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.