Frequency of MT-RNR1 Variants Identified Through Pharmacogenetic Testing in a Large Adult Cohort

Introduction

• Pathogenic variants in MT-RNR1, including m.1555A>G, m.1095T>C, and m.1494C>T, are associated with an increased risk of aminoglycoside-induced hearing loss (AIHL).
• Due to this risk, the Clinical Pharmacogenetics Implementation Consortium (CPIC) recommends avoiding the use of aminoglycoside antibiotics in individuals with these MT-RNR1 variants.
• Testing for these variants has been incorporated into some pharmacogenetic (PGx) panels.
• However, availability of MT-RNR1 testing for these findings is more limited in typical PGx panel testing due to capture and reporting needs for mitochondrial genome assessment such as detection of plasmy levels.
• The frequency of MT-RNR1 variants in an unselected adult cohort undergoing PGx testing is limited.