Following the American College of Medical Genetics and Genomics (ACMG) guidelines for variants interpretation and annotation [25], the variant was classified as pathogenic (score: PSV1, PS4, PP1, PP3, PM4, and PM2), and segregates with the phenotype within the family, further supporting it as the likely causal variant associated with autosomal recessive deafness-49 (DFNB49) phenotype. The gene discussed is TAS2R18P; the disease is hearing loss, autosomal recessive.