ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.3986G>A (p.Gly1329Asp) (rs201877610)

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,Partners HealthCare Personalized Medicine RCV000039168 SCV000062852 uncertain significance not specified 2016-06-02 criteria provided, single submitter clinical testing The p.Gly1329Asp variant in CDH23 has been previously reported in the heterozygo us state in 1 individual with hearing loss by our laboratory and in 1 individual with Usher syndrome (Bujakowska 2014). However, neither individual had a second variant affecting the remaining copy of CDH23 and the individual reported by Bu jakowska (2014) had an alternate explanation of the hearing loss identified. Thi s variant was also identified in 35/63866 European chromosomes by the Exome Aggr egation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201877610). Al though this variant has been seen in the general population, its frequency is no t high enough to rule out a pathogenic role. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though t his information is not predictive enough to determine pathogenicity. In summar y, the clinical significance of the p.Gly1329Asp variant is uncertain.
GeneDx RCV000726811 SCV000577393 uncertain significance not provided 2018-12-06 criteria provided, single submitter clinical testing The G1329D variant in the CDH23 gene has not been reported previously as a pathogenic variant, nor as a benign variant, to our knowledge. The G1329D variant is observed in 35/63866 (0.055%) alleles from individuals of European background, in the ExAC dataset (Lek et al., 2016). The G1329D 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. This substitution occurs at a position that is conserved across species. In silico analysis predicts this variant is probably damaging to the protein structure/function. We interpret G1329D as a variant of uncertain significance.
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000726811 SCV000703221 uncertain significance not provided 2016-11-10 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764916 SCV000896079 uncertain significance Deafness, autosomal recessive 12; Usher syndrome, type 1D; PITUITARY ADENOMA 5, MULTIPLE TYPES 2018-10-31 criteria provided, single submitter clinical testing

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.