ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.9850G>A (p.Gly3284Arg) (rs773064083)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000486126 SCV000568251 uncertain significance not specified 2017-03-20 criteria provided, single submitter clinical testing The G3256R variant of uncertain significance in the ZNF469 gene has previously been reported in one individual with keratoconus (Vincent et al., 2014). Data from control individuals was not available to assess whether G3256R may be a common benign variant in the general population (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The G3256R 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. However, this substitution occurs at a position that is not conserved across species, and Arginine is the wild-type amino acid at this position in at least two species. Furthermore, in silico analysis predicts this variant likely does not alter the protein structure/function.

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.