This variant lies on Chromosome 1 and affects the gene LOC126806068, RYR2 (BRD4-independent group 4 enhancer GRCh37_chr1:237947411-237948610| ryanodine receptor 2). Based on this context, is the mutation pathogenic or benign? If pathogenic, what disease does it cause?
Pathogenic; Catecholaminergic polymorphic ventricular tachycardia 1