This variant affects the gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) found on Chromosome 15. What is the clinical effect of this variant — benign or pathogenic? State the disease if applicable.
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection