ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5179A>G (p.Thr1727Ala) (rs762005355)

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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 RCV000221195 SCV000271563 uncertain significance not specified 2015-11-12 criteria provided, single submitter clinical testing The p.Thr1727Ala variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 1/11490 Latino chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org; dbSNP rs762005355). Computational prediction tools and conservation anal ysis suggest that this variant may impact the protein, though this information i s not predictive enough to determine pathogenicity. In summary, the clinical sig nificance of the p.Thr1727Ala variant is uncertain.

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