This sequence variant lies in BSCL2, HNRNPUL2-BSCL2 (BSCL2 lipid droplet biogenesis associated, seipin| HNRNPUL2-BSCL2 readthrough (NMD candidate)) on Chromosome 11. Is it clinically significant, and what condition might it cause if any?
Pathogenic; Hereditary spastic paraplegia 17