ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1411G>A (p.Glu471Lys) (rs778511495)

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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 RCV000825885 SCV000967370 uncertain significance not specified 2018-04-11 criteria provided, single submitter clinical testing The p.Glu471Lys variant in CDH23 has been previously detected by our laboratory in one individual with sensorineural hearing loss who carried a second CDH23 var iant of uncertain significance; however the configuration of the variants (in ci s or in trans) was not determined. The variant was also identified in 5/246240 g eneral population chromosomes by the Genome Aggregation Database (gnomAD, http:/ /gnomad.broadinstitute.org; dbSNP rs778511495). Although this variant has been s een in the general population, its frequency is not high enough to rule out a pa thogenic role. Computational prediction tools and conservation analyses suggest that this variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. In summary, the clinical significance of the p.Glu471Lys variant is uncertain. ACMG/AMP Criteria applied: PM2, PP3.

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