ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4656del (p.Glu1553fs)

dbSNP: rs62640572
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002514528 SCV003441208 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 99854). This variant is also known as 4656delA (K1552fsX1556). This premature translational stop signal has been observed in individual(s) with Joubert syndrome (PMID: 16682973). This variant is present in population databases (rs62640572, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Glu1553Lysfs*4) 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).
OMIM RCV002221147 SCV000021547 pathogenic Joubert syndrome 5 2006-06-01 no assertion criteria provided literature only
Retina International RCV000086291 SCV000118437 not provided not provided no assertion provided not provided

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.