The variant c.2090 T > G: p.Leu697Trp, [hg19]chr10:26.414.513 in the gene MYO3A (NM_017433.4) is a nonsynonymous substitution mutation, in a gene that has already been related to autosomal recessive hearing loss. The gene discussed is MYO3A; the disease is hearing loss, autosomal recessive.