ClinVar Miner

Submissions for variant NM_016122.3(CEP83):c.1321A>G (p.Arg441Gly)

dbSNP: rs577668407
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417742 SCV000536254 uncertain significance not provided 2017-01-10 criteria provided, single submitter clinical testing The R441G variant in the CEP83 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The R441G variant was not observed in approximately 6000 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R441G variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position where amino acids with similar properties to Arginine are tolerated across species. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R441G as a variant of uncertain significance.
Invitae RCV001034799 SCV001198098 likely benign Nephronophthisis 18 2023-12-21 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.