Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Laboratory for Molecular Medicine, |
RCV000151671 | SCV000199953 | likely pathogenic | Rare genetic deafness | 2013-12-27 | criteria provided, single submitter | clinical testing | The X362fs variant in POU3F4 has not been previously reported in individuals wit h hearing loss or in large population studies. This nonstop extension variant al ters the normal stop codon at position 362 leading to the addition of 106 amino acids and significant loss of the 3? untranslated region (3'UTR). Two similar ex tension variants in POU3F4, that also cause disruption of the stop codon and los s of the 3?UTR, have been reported in two individuals with hearing loss (Choi 20 13). Functional analyses reveal that these variants alter the protein?s expressi on, localization and function (Choi 2013); however, functional studies are neede d to determine whether the variant in this individual would have the same impact on the protein. In summary, this variant is likely to be pathogenic, though add itional studies are required to fully establish its clinical significance. |