Mutation context: Chromosome 1, Gene POMGNT1, TSPAN1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)| tetraspanin 1). Determine if this variant is likely to be benign or pathogenic. Mention the disease if applicable.
Pathogenic; Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3