ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5515_5518del (p.Glu1839fs)

dbSNP: rs281865187
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001235817 SCV001408522 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-01-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu1839Lysfs*11) in the CEP290 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CEP290 are known to be pathogenic (PMID: 16909394, 17345604, 20690115). This variant is present in population databases (rs281865187, gnomAD 0.007%). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 16682973). ClinVar contains an entry for this variant (Variation ID: 99859). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003467015 SCV004216719 pathogenic Bardet-Biedl syndrome 14 2023-01-05 criteria provided, single submitter clinical testing
Retina International RCV000086296 SCV000118442 not provided not provided no assertion provided not provided
Natera, Inc. RCV001826775 SCV002094184 pathogenic Leber congenital amaurosis 2020-10-27 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004732680 SCV005360894 pathogenic CEP290-related disorder 2024-04-26 no assertion criteria provided clinical testing The CEP290 c.5515_5518delGAGA variant is predicted to result in a frameshift and premature protein termination (p.Glu1839Lysfs*11). This variant was reported in individuals with Joubert syndrome (Sayer et al. 2006. PubMed ID: 16682973; Chaki et al. 2011. PubMed ID: 21866095). This variant is reported in 0.0056% of alleles in individuals of East Asian descent in gnomAD. Frameshift variants in CEP290 are expected to be pathogenic. This variant is interpreted 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.