ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.46del (p.Val16fs)

dbSNP: rs397517331
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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 RCV000039188 SCV000062872 pathogenic Rare genetic deafness 2010-11-01 criteria provided, single submitter clinical testing The Val16fs variant in CDH23 has not been reported in the literature nor previou sly identified by our laboratory. However, the Val16fs variant is predicted to c ause a frameshift, which alters the protein's amino acid sequence beginning at c odon 16 and leads to a premature stop codon 1 codons downstream. This alteration is then predicted to lead to a truncated or absent protein. In summary, this va riant meets our criteria to be classified as pathogenic.

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