ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.5932C>T (p.Arg1978Ter)

gnomAD frequency: 0.00001  dbSNP: rs371525247
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
UW Hindbrain Malformation Research Program, University of Washington RCV000201627 SCV000256389 pathogenic Joubert syndrome 5 2015-02-23 criteria provided, single submitter research
Eurofins Ntd Llc (ga) RCV000598256 SCV000705096 pathogenic not provided 2017-01-18 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001382359 SCV001581094 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2023-12-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg1978*) 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 (rs371525247, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with features of CEP290-related disease (PMID: 17617513, 26092869). ClinVar contains an entry for this variant (Variation ID: 217637). 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.
Baylor Genetics RCV003468924 SCV004216561 pathogenic Bardet-Biedl syndrome 14 2023-08-15 criteria provided, single submitter clinical testing
Palindrome, Gene Kavoshgaran Aria RCV000201627 SCV005186195 pathogenic Joubert syndrome 5 2024-07-10 criteria provided, single submitter 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.