Chromosome 22 houses a mutation in gene SPECC1L-ADORA2A, SPECC1L (SPECC1L-ADORA2A readthrough (NMD candidate)| sperm antigen with calponin homology and coiled-coil domains 1 like). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; SPECC1L-related syndrome