ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.4150C>T (p.Arg1384Cys)

gnomAD frequency: 0.00001  dbSNP: rs794727563
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177660 SCV000229562 uncertain significance not provided 2015-05-29 criteria provided, single submitter clinical testing
Invitae RCV001248745 SCV001422253 uncertain significance Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2022-02-28 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1384 of the CEP290 protein (p.Arg1384Cys). This variant is present in population databases (rs794727563, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with CEP290-related conditions. ClinVar contains an entry for this variant (Variation ID: 196793). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Genome-Nilou Lab RCV001526754 SCV001737269 uncertain significance Joubert syndrome 5 2021-05-18 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002478586 SCV002776938 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2021-07-06 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003917653 SCV004731323 uncertain significance CEP290-related condition 2023-10-23 criteria provided, single submitter clinical testing The CEP290 c.4150C>T variant is predicted to result in the amino acid substitution p.Arg1384Cys. This variant was reported in the homozygous state in an individual who underwent whole exome sequencing due to a personal history of developmental delay and seizures; however, no evidence was provided regarding the pathogenicity of this variant (Monies et al. 2017. PubMed ID: 28600779, Supplementary Materials). This variant is reported in 0.010% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/12-88481601-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.
Natera, Inc. RCV001826901 SCV002094233 uncertain significance Leber congenital amaurosis 2020-07-10 no assertion criteria provided 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.