Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000217325 | SCV000272243 | uncertain significance | not specified | 2016-02-28 | criteria provided, single submitter | clinical testing | The p.Val73Phe variant in OTOF has not been previously reported in individuals w ith hearing loss. This variant has been identified in 1/63784 European chromosom es by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; db SNP rs138545671), however its frequency is not high enough to rule out a pathoge nic role. Computational prediction tools and conservation analyses suggest that the p.Val73Phe variant may impact the protein, though this information is not pr edictive enough to determine pathogenicity. In summary, the clinical significanc e of the p.Val73Phe variant is uncertain. |