ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.10888C>T (p.Arg3630Cys) (rs200668806)

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 RCV000485415 SCV000570962 uncertain significance not specified 2017-09-26 criteria provided, single submitter clinical testing The R3602C variant in the ZNF469 gene has been reported previously in a group of 112 unrelated European patients with keratoconus (Lechner et al., 2014). The R3602C variant is also observed in 16/5242 alleles (0.31%) from individuals of non-Finnish European background in the ExAC dataset, and 3/1006 alleles (0.30%) in the 1000 Genomes Project, although no homozygous individuals were observed in either group (Lek et al., 2016; 1000 Genomes Consortium et al., 2015). The R3602C 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 in silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. We interpret R3602C as a variant of uncertain significance.
Fulgent Genetics,Fulgent Genetics RCV000765316 SCV000896572 uncertain significance Brittle cornea syndrome 1 2018-10-31 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.