ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.3452C>T (p.Ala1151Val) (rs755348435)

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
Fulgent Genetics,Fulgent Genetics RCV000764086 SCV000895050 uncertain significance Corneal fragility keratoglobus, blue sclerae AND joint hypermobility 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000489129 SCV000576480 uncertain significance not specified 2017-05-03 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The A1123V variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). However, the A1123V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. This substitution occurs at a position that is not conserved across species and where valine is the wild type in several species. 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.