ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9503G>A (p.Arg3168His) (rs754557923)

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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 RCV000825887 SCV000967372 uncertain significance not specified 2018-05-18 criteria provided, single submitter clinical testing The p.Arg3168His variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome. This variant has been identified in 6/335 72 of Latino chromosomes by the Genome Aggregation Database (gnomAD, http://gnom ad.broadinstitute.org; dbSNP rs754557923). Computational prediction tools and co nservation analysis suggest that the p.Arg3168His variant may impact the protein , though this information is not predictive enough to determine pathogenicity. I n summary, the clinical significance of the p.Arg3168His variant is uncertain. A CMG/AMP Criteria applied: PP3.

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