ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.437del (p.Glu146fs)

gnomAD frequency: 0.00001  dbSNP: rs1452465499
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000596455 SCV000701995 pathogenic not provided 2016-11-09 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001381364 SCV001579728 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-11-29 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 497475). This premature translational stop signal has been observed in individual(s) with clinical features of Leber congenital amaurosis (PMID: 20683928). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu146Glyfs*17) 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).
Fulgent Genetics, Fulgent Genetics RCV002483577 SCV002785064 pathogenic Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-01-10 criteria provided, single submitter clinical testing
Baylor Genetics RCV003465333 SCV004216528 pathogenic Bardet-Biedl syndrome 14 2024-03-14 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.