ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.6392A>G (p.Glu2131Gly)

gnomAD frequency: 0.00020  dbSNP: rs184323010
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000529924 SCV000634664 likely benign Familial aplasia of the vermis; Meckel-Gruber syndrome; Nephronophthisis 2024-12-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000765112 SCV000896334 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2022-03-15 criteria provided, single submitter clinical testing
GeneDx RCV002469187 SCV002765810 uncertain significance not provided 2022-06-14 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Natera, Inc. RCV001272013 SCV001453641 uncertain significance Leber congenital amaurosis 2020-06-14 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV004732937 SCV005347149 uncertain significance CEP290-related disorder 2024-09-15 no assertion criteria provided clinical testing The CEP290 c.6392A>G variant is predicted to result in the amino acid substitution p.Glu2131Gly. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.095% of alleles in individuals of African descent in gnomAD, which may be too common to be an undocumented pathogenic variant. Although we suspect that this variant may be benign, 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.