This variant affects the gene ATRIP, ATRIP-TREX1, TREX1 (ATR interacting protein| ATRIP-TREX1 readthrough| three prime repair exonuclease 1) found on Chromosome 3. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Aicardi-Goutieres syndrome 1