ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7651C>G (p.Pro2551Ala) (rs548188123)

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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 RCV000156725 SCV000206446 uncertain significance not specified 2014-08-21 criteria provided, single submitter clinical testing The Pro2551Ala variant in CDH23 has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analyses suggest that the Pro2551Ala variant may impact the protein, though this information is not predictive enough to determi ne pathogenicity. In summary, the clinical significance of the Pro2551Ala varian t is uncertain.

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