THG1L-related disorder belongs to a group of disorders associated with abnormalities of mitochondrial tRNA modification.
A disease causing variant on both copies of the THG1Lgene have been reported to be associated with THG1L-related disorder.
The specific variant p.(Val55Ala) appears to be a founder mutation, or a variant common in a specific group of people, in the Ashkenazi Jewish population. It is estimated that about 0.80% - 0.85% of individuals of Ashkenazi Jewish descent are carriers for this variant. Carriers are individuals who have only one disease causing variant. Carriers are not expected to exhibit symptoms.
THG1L