ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1373C>T (p.Pro458Leu)

dbSNP: rs1554850744
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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, Mass General Brigham Personalized Medicine RCV000610968 SCV000731442 uncertain significance not specified 2017-03-11 criteria provided, single submitter clinical testing The p.Pro458Leu variant in CDH23 has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational p rediction tools and conservation analysis suggest that the p.Pro458Leu variant m ay impact the protein, though this information is not predictive enough to deter mine pathogenicity. In summary, the clinical significance of the p.Pro458Leu var iant is uncertain.

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