Gene FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765) on Chromosome 15 is impacted by this variant. Evaluate whether it is clinically benign or pathogenic and name the disorder if relevant.
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection