ClinVar Miner

Submissions for variant NM_025114.4(CEP290):c.916G>A (p.Val306Ile)

dbSNP: rs558949569
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
Eurofins Ntd Llc (ga) RCV000593686 SCV000709430 uncertain significance not provided 2017-06-28 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001002636 SCV001160619 uncertain significance not specified 2019-06-19 criteria provided, single submitter clinical testing The CEP290 c.916G>A; p.Val306Ile variant (rs558949569), to our knowledge, is not reported in the medical literature or gene-specific databases. The variant is listed in the ClinVar database (Variation ID: 502622) and in the general population with an allele frequency of 0.0036% (6/182620 alleles) in the Genome Aggregation Database. The amino acid at this position is moderately conserved and computational analyses (SIFT, PolyPhen-2) predict that this variant is tolerated. Due to limited information, the clinical significance of the variant is uncertain at this time.
Fulgent Genetics, Fulgent Genetics RCV002483661 SCV002788047 uncertain significance Leber congenital amaurosis 10; Meckel syndrome, type 4; Senior-Loken syndrome 6; Joubert syndrome 5; Bardet-Biedl syndrome 14 2024-02-06 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834911 SCV002094344 uncertain significance Leber congenital amaurosis 2019-10-28 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.