THG1L-related disorder belongs to a group of disorders associated with abnormalities of mitochondrial tRNA modification.
Bi-allelic missense variants have been reported to be associated with THG1L-related disorder.
The p.(Val55Ala) variant appears to be a founder mutation in the Ashkenazi Jewish population, estimated to have a carrier frequency in the Ashkenazi Jewish population of 0.80% - 0.85%.
THG1L