ClinVar Miner

Submissions for variant NM_001009894.3(C12orf29):c.*807_*808CT[1] (rs569673313)

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
GeneDx RCV000413111 SCV000490460 uncertain significance not specified 2016-11-27 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the CEP290 gene. The c.7394_7395delAG variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The c.7394_7395delAG variant is observed in 72/16,502 (0.4%) alleles from individuals of South Asian background (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.7394_7395delAG variant causes a frameshift starting with codon Glutamic acid 2465, changes this amino acid to a Valine residue and creates a premature Stop codon at position 2 of the new reading frame, denoted p.Glu2465ValfsX2. This variant is predicted to cause loss of normal protein function through protein truncation as the last 15 amino acids of the CEP290 protein and lost and replaced with 1 incorrect amino acid. However, this deletion occurs in a region that is not conserved. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714704 SCV000845428 uncertain significance Joubert syndrome 5 2018-08-07 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000714705 SCV000845429 uncertain significance Bardet-Biedl syndrome 14 2018-08-07 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.