ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.1528G>A (p.Gly510Ser)

dbSNP: rs755555951
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
Illumina Laboratory Services, Illumina RCV000354664 SCV000399272 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
Ambry Genetics RCV002392873 SCV002706620 uncertain significance Cardiovascular phenotype 2022-08-03 criteria provided, single submitter clinical testing The p.G510S variant (also known as c.1528G>A), located in coding exon 1 of the ZNF469 gene, results from a G to A substitution at nucleotide position 1528. The glycine at codon 510 is replaced by serine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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.