ClinVar Miner

Submissions for variant NM_001367624.1(ZNF469):c.8381C>T (p.Thr2794Met) (rs202188220)

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 RCV000498187 SCV000589899 uncertain significance not specified 2017-05-31 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ZNF469 gene. The T2766M variant has not been published as pathogenic or been reported as benign to our knowledge. This variant is observed in approximately 1% alleles from individuals of African ancestry in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is not conserved across species. In silico analysis predicts this variant likely does not alter the protein structure/function. Nevertheless, the T2766M 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.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV001027812 SCV001190428 likely benign Brittle cornea syndrome 1 2019-10-22 criteria provided, single submitter clinical testing ZNF469 NM_001127464.2 exon 2 p.Thr2766Met (c.8297C>T): This variant has not been reported in the literature but is present in 0.8% (135/16582) of African alleles in the Genome Aggregation Database (https://gnomad.broadinstitute.org/variant/16-88502259-C-T). This variant is present in ClinVar (Variation ID:432203). Evolutionary conservation and computational predictive tools suggest that this variant may not impact the protein. In summary, data on this variant suggests that this variant does not cause disease, but requires further evidence. Therefore this variant is classified as likely benign.

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.