ClinVar Miner

Submissions for variant NM_001367624.2(ZNF469):c.7159C>T (p.Arg2387Cys)

gnomAD frequency: 0.00001  dbSNP: rs886052409
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000313843 SCV000399391 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV003320630 SCV004025479 uncertain significance not provided 2023-02-09 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV003380548 SCV004096624 uncertain significance Cardiovascular phenotype 2023-09-06 criteria provided, single submitter clinical testing The p.R2359C variant (also known as c.7075C>T), located in coding exon 2 of the ZNF469 gene, results from a C to T substitution at nucleotide position 7075. The arginine at codon 2359 is replaced by cysteine, an amino acid with highly dissimilar 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.
Mayo Clinic Laboratories, Mayo Clinic RCV003320630 SCV005411400 uncertain significance not provided 2024-06-25 criteria provided, single submitter clinical testing BP4

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.