A variant affecting Chromosome 3, within the gene ITPR1, LOC126806590 (inositol 1,4,5-trisphosphate receptor type 1| MED14-independent group 3 enhancer GRCh37_chr3:4855759-4856958), has been observed. Determine if it's benign or associated with disease.
Pathogenic; Spinocerebellar ataxia type 15/16