This variant lies on Chromosome 6 and affects the gene PHACTR1, TBC1D7-LOC100130357 (phosphatase and actin regulator 1| TBC1D7-LOC100130357 readthrough). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Developmental and epileptic encephalopathy, 70