This sequence change occurs on Chromosome 15, altering FBN1, LOC126862124 (fibrillin 1| CDK7 strongly-dependent group 2 enhancer GRCh37_chr15:48764566-48765765). What is the medical significance of this variant — is it benign or linked to a disease?
Pathogenic; Familial thoracic aortic aneurysm and aortic dissection