ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6919_6920del (p.Glu2307fs)

dbSNP: rs1177923180
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 RCV001233471 SCV001406068 pathogenic Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-02-24 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with CEP290-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Glu2307Thrfs*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). ClinVar contains an entry for this variant (Variation ID: 960022). For these reasons, this variant has been classified as Pathogenic.
Ocular Genomics Institute, Massachusetts Eye and Ear RCV001376200 SCV001573255 likely pathogenic Leber congenital amaurosis 10 2021-04-08 criteria provided, single submitter research The CEP290 c.6919_6920del variant was identified in an individual with retinitis pigmentosa with a presumed recessive inheritance pattern. Through a review of available evidence we were able to apply the following criteria: PM2, PVS1. Based on this evidence we have classified this variant as Likely Pathogenic.
Baylor Genetics RCV003469425 SCV004216692 likely pathogenic Bardet-Biedl syndrome 14 2023-11-17 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.