Chromosome 22 houses a mutation in gene SPECC1L, SPECC1L-ADORA2A (sperm antigen with calponin homology and coiled-coil domains 1 like| SPECC1L-ADORA2A readthrough (NMD candidate)). Classify its clinical impact — is it pathogenic or benign, and what disease does it lead to if any?
Pathogenic; not provided