Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000825414 | SCV000966712 | uncertain significance | not specified | 2018-08-16 | criteria provided, single submitter | clinical testing | The p.Gly342Arg variant in OTOF has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analysis do not provide strong support for or ag ainst an impact to the protein. In summary, the clinical significance of the p.G ly342Arg variant is uncertain. ACMG/AMP Criteria applied: PM2. |