Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000825584 | SCV000966924 | likely pathogenic | Rare genetic deafness | 2019-02-19 | criteria provided, single submitter | clinical testing | The deletion of exons 14-20 of the EYA4 gene has not been previously reported in individuals with hearing loss and was absent from the Database of Genomic Variants (DGV, http://dgv.tcag.ca/dgv/app/home). This variant is a deletion of 7 exons encoding the C-terminal end of EYA4 and is predicted to result in a truncated or absent protein. Due to limitations of the testing methodology, the exact breakpoints of the detected deletion could not be determined. Follow-up testing would be necessary to determine if neighboring genes are impacted. Nonetheless, loss-of-function of the EYA4 gene is an established mechanism for autosomal dominant sensorineural hearing loss. In summary, although additional studies are required to fully establish its clinical significance, this variant meets criteria to be classified as likely pathogenic for autosomal dominant hearing loss. ACMG/AMP Criteria applied: PVS1, PM2. |