ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.64GAA[1] (p.Glu23del)

dbSNP: rs780211907
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
Labcorp Genetics (formerly Invitae), Labcorp RCV002042721 SCV002291384 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-10-24 criteria provided, single submitter clinical testing This variant, c.67_69del, results in the deletion of 1 amino acid(s) of the CEP290 protein (p.Glu23del), but otherwise preserves the integrity of the reading frame. This variant is present in population databases (rs780211907, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002486629 SCV002784425 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-04-15 criteria provided, single submitter clinical testing
Neuberg Centre For Genomic Medicine, NCGM RCV003339885 SCV004047368 uncertain significance Joubert syndrome 5 criteria provided, single submitter clinical testing The Inframe deletion variant c.67_69del (p.Glu23del) in CEP290 has been submitted to ClinVar as Variant of Uncertain Significance (VUS). The p.Glu23del variant has allele frequency of 0.0012% in the gnomad and novel (not in any individuals) in 1000 genome database. This p.Glu23del causes deletion of amino acid Glutamic Acid at position 23. The observed variant is not in repeat region. For these reasons, this variant has been classified as Uncertain Significance (VUS).
PreventionGenetics, part of Exact Sciences RCV004538724 SCV004733682 uncertain significance CEP290-related disorder 2024-02-23 no assertion criteria provided clinical testing The CEP290 c.67_69delGAA variant is predicted to result in an in-frame deletion (p.Glu23del). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.010% of alleles in individuals of South Asian descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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.