ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.4879G>A (p.Glu1627Lys) (rs755926639)

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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 RCV000605786 SCV000712348 uncertain significance not specified 2016-08-02 criteria provided, single submitter clinical testing The p.Glu1627Lys variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, but it has been identified in 1/14360 Sou th Asian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broa dinstitute.org; dbSNP rs755926639). Computational prediction tools and conservat ion analyses suggest that this variant may impact the protein, though this infor mation is not predictive enough to determine pathogenicity. In summary, the clin ical significance of the p.Glu1627Lys variant is uncertain.

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