ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9979G>A (p.Ala3327Thr) (rs200733236)

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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 RCV000825883 SCV000967368 uncertain significance not specified 2018-10-04 criteria provided, single submitter clinical testing The p.Ala3327Thr variant in CDH23 has not been previously reported in individual s with hearing loss or Usher syndrome, but has been identified in 0.018% (23/123 684) of European chromosomes by gnomAD (http://gnomad.broadinstitute.org). Compu tational prediction tools and conservation analysis suggest that this variant ma y impact the protein, though this information is not predictive enough to determ ine pathogenicity. In summary, the clinical significance of this variant is unce rtain. ACMG/AMP Criteria applied: PM2_Supporting, PP3.

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