Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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). |