ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1449+43C>T (rs550931640)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000601728 SCV000712356 uncertain significance not specified 2016-08-04 criteria provided, single submitter clinical testing The p.Pro498Ser variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 1/11572 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitut e.org; dbSNP rs550931640). Although this variant has been seen in the general po pulation, its frequency is not high enough to rule out a pathogenic role. Comput ational prediction tools and conservation analyses suggest that this variant may not impact the protein, though this information is not predictive enough to rul e out pathogenicity. In summary, the clinical significance of the p.Pro498Ser va riant is uncertain.

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