ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.6637G>A (p.Gly2213Ser)

gnomAD frequency: 0.00008  dbSNP: rs375900265
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
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000150308 SCV000197392 likely benign not specified 2013-10-11 criteria provided, single submitter clinical testing Gly2213Ser in Exon 48 of CDH23: This variant is not expected to have clinical s ignificance because the glycine (Gly) residue at position 2213 is not conserved through species, with many mammals having a serine (Ser). In addition, this var iant has been identified in 0.01% (1/8522) of European American chromosomes by t he NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS/; dbSNP rs37 5900265).
Labcorp Genetics (formerly Invitae), Labcorp RCV002516020 SCV003515553 likely benign not provided 2024-11-05 criteria provided, single submitter clinical testing
Ambry Genetics RCV004019802 SCV004922008 uncertain significance Inborn genetic diseases 2024-01-03 criteria provided, single submitter clinical testing The c.6637G>A (p.G2213S) alteration is located in exon 48 (coding exon 47) of the CDH23 gene. This alteration results from a G to A substitution at nucleotide position 6637, causing the glycine (G) at amino acid position 2213 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
GeneDx RCV002516020 SCV005437529 uncertain significance not provided 2024-06-13 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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.