Reported by ClinVar to cause deafness in a dominant manner (https://www.ncbi.nlm.nih.gov/clinvar/variation/236066/). In ClinVar this variant is reported as a “pathogenic” cause of this disease by a single source, the Laboratory of Prof. Karen Avraham,Tel Aviv University. This submission does not reference any published literature. This variant is rare according to ExAC data, potentially consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/15-43896918-G-A).