ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.8065C>T (p.Leu2689Phe)

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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 RCV001195487 SCV001365864 uncertain significance not specified 2019-05-28 criteria provided, single submitter clinical testing The p.Leu2689Phe variant in CDH23 has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact of this missense change upon the protein. This variant is located in the first base of the exon, which is part of the 3’ splice region. Computational tools do not predict a splicing impact, though this information is not predictive enough to /rule out pathogenicity. In summary, the clinical significance of this variant is uncertain. ACMG/AMP Criteria applied: PM2.

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