ClinVar Miner

Submissions for variant NM_001127464.2(ZNF469):c.4448_4450delTGC (p.Leu1483del) (rs555544144)

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 Clinical Services Laboratory,Illumina RCV000281960 SCV000399348 uncertain significance Brittle cornea syndrome 1 2016-06-14 criteria provided, single submitter clinical testing
GeneDx RCV000520841 SCV000619380 uncertain significance not specified 2017-07-24 criteria provided, single submitter clinical testing The c.4448_4450delTGC variant in the ZNF469 gene has not been reported to our knowledge. In addition, this variant has not been observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.4448_4450delTGC variant is predicted to result in the deletion of one leucine amino acid at position 1483, denoted p.Leu1483del. This in-frame deletion is not expected to result in protein truncation or loss of protein from this allele through nonsense-mediated mRNA decay. No other in-frame deletions in the ZNF469 gene have been reported in the Human Gene Mutation Database definitively in association with disease (Stenson et al., 2014). Furthermore, no missense variants in nearby residues have been reported in HGMD in association with the disease (Stenson et al., 2009), indicating this region of the protein is not known to harbor disease-associated variation.

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.