ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.9070G>A (p.Val3024Met) (rs370087572)

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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 RCV000600062 SCV000731615 uncertain significance not specified 2017-05-02 criteria provided, single submitter clinical testing The p.Val3024Met variant in CDH23 has not been previously reported in individual s with hearing loss, but has been identified in 9/126628 European chromosomes by the Genome Aggregation Database (gnomAD, http://gnomad.broadinstitute.org/; dbS NP rs370087572). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Computational pr ediction tools and conservation analysis suggest that this variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the p.Val3024Met variant is unc ertain.

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