ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1478G>A (p.Gly493Glu) (rs397517308)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000039107 SCV000062789 uncertain significance not specified 2012-09-28 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Pathogenic. The Gly493Glu v ariant in CDH23 has not been reported nor previously identified by our laborator y. This variant has not been identified in large and broad European American an d African American populations by the NHLBI Exome Sequencing Project (http://evs .gs.washington.edu/EVS). Computational analyses (biochemical amino acid properti es, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Gly493Glu var iant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty.

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.