ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.2870G>A (p.Arg957His) (rs748047907)

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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 RCV000611860 SCV000712266 uncertain significance not specified 2016-06-09 criteria provided, single submitter clinical testing The p.Arg957His variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 3/63566 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs748047907). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Comp utational prediction tools and conservation analyses do not provide strong suppo rt for or against an impact to the protein. In summary, the clinical significanc e of the p.Arg957His variant is uncertain.

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