ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.5807G>A (p.Arg1936His) (rs558551826)

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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 RCV000603621 SCV000731953 uncertain significance not specified 2017-09-29 criteria provided, single submitter clinical testing The p.Arg1936His variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 7/28012 South Asian chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broa; dbSNP rs558551826). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic ro le. Computational prediction tools and conservation analysis suggest that the va riant may impact the protein, though this information is not predictive enough t o determine pathogenicity. In summary, the clinical significance of the p.Arg193 6His variant is uncertain. ACMG/AMP Criteria applied: PM2; PP3 (Richards 2015).

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