rs727503045

Description

Variant classified as Uncertain Significance - Favor Pathogenic. The 1360+2C>T v ariant in EYA1 has not been reported in individuals with hearing loss or clinica l features of Branchio-oto-renal (BOR) syndrome, and was not identified in large population studies. This variant is located in the 5' splice region at the inva riant +1/2 splice site positions. Another intronic mutation in proximity of this splice junction has been reported in one individual with BOR (Stockley 2009). H owever, computational tools do not suggest an impact to splicing, though this in formation is not predictive enough to rule out pathogenicity. In summary, additi onal information is needed to determine the clinical significant of this variant .