ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1301A>G (p.Asn434Ser) (rs139287714)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000150275 SCV000197293 uncertain significance not specified 2015-02-18 criteria provided, single submitter clinical testing Variant classified as Uncertain Significance - Favor Benign. The p.Asn434Ser var iant in CDH23 has been previously identified by our laboratory in 1 individual w ith hearing loss who did not carry a second CDH23 variant. This variant has also been identified in 0.2% (24/9802) of African chromosomes by the Exome Aggregati on Consortium (ExAC,; dbSNP rs139287714). Althoug h this variant has been seen in the general population, its frequency is not hig h enough to rule out a pathogenic role. Computational prediction tools and conse rvation analyses suggest that this variant may impact the protein, though this i nformation is not predictive enough to determine pathogenicity. In summary, the clinical significance of this variant cannot be determined with certainty; howev er, the frequency data suggest that it is more likely to be benign.
GeneDx RCV000731528 SCV000570876 uncertain significance not provided 2021-09-02 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000731528 SCV000859359 uncertain significance not provided 2018-02-01 criteria provided, single submitter clinical testing
Invitae RCV000731528 SCV001059653 likely benign not provided 2020-11-18 criteria provided, single submitter clinical testing
Natera, Inc. RCV001275925 SCV001461605 uncertain significance Usher syndrome type 1 2020-01-08 no assertion criteria provided 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.