ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.1542_1544CAT[1] (p.Ile515del) (rs727502922)

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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 RCV000150278 SCV000197301 uncertain significance not specified 2014-02-13 criteria provided, single submitter clinical testing The Ile515del variant in CDH23 has not been previously reported in individuals w ith hearing loss. Data from large population studies is insufficient to assess the frequency of this variant. This variant causes an in-frame deletion of an a mino acid residue (Ile) at position 515. This variant is a deletion of one amino acid at position 515 and is not predicted to alter the protein reading-frame. I t is unclear if this deletion will impact the protein. In summary, additional in formation is needed to determine the clinical significance of this variant.

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