This is also true for the variant identified in DGR349 (p.Gly737Arg) which has previously been identified and characterised in ClinVar (VCV000013513.13) and was associated with progressive sclerosing poliodystrophy mitochondrial DNA depletion syndrome 4B—MNGIE type (MIM# 613,662), sensory ataxic neuropathy-dysarthria-ophthalmoparesis syndrome (MIM# 607,459), and POLG-related spectrum disorders, seizures, and progressive external ophthalmoplegia with mitochondrial DNA deletions (autosomal recessive). Here, POLG is linked to mitochondrial DNA depletion syndrome 4a.