A variant has been detected on Chromosome 3 in ATG7, LOC126806603 (autophagy related 7| CDK7 strongly-dependent group 2 enhancer GRCh37_chr3:11405755-11406954). What is its effect — pathogenic or benign? If pathogenic, name the disease.
Pathogenic; Spinocerebellar ataxia, autosomal recessive 31