ClinVar Miner

Submissions for variant NM_022124.6(CDH23):c.7979_7986del (p.Asp2660fs)

dbSNP: rs727504761
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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 RCV000156071 SCV000205784 pathogenic Rare genetic deafness 2013-10-17 criteria provided, single submitter clinical testing The Asp2660fs variant in CDH23 has not been reported in individuals with hearing loss or in large population studies. This frameshift variant is predicted to al ter the protein?s amino acid sequence beginning at position 2660 and lead to a p remature termination codon 55 amino acids downstream. This alteration is then pr edicted to lead to a truncated or absent protein. In summary, this variant meet s our criteria to be classified as pathogenic (http://pcpgm.partners.org/LMM).

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