The c.8245-2A>G variant has been reported in a single instance as pathogenic in a compound heterozygous state in a patient with a severe form of LAMA2-associated muscular dystrophy (MD) and in that case, IHC analysis showed residual expression of the laminin α2 chain and partial deficiency of merosin. The gene discussed is LAMA2; the disease is muscular dystrophy.