Molecular characteristics

SETD2-neurodevelopmental disorder with or without overgrowth/macrocephaly has been associated with missense, nonsense, or frameshift variants. The c.5218C>T p.(Arg1740Trp) variant is a recurrent variant known to be associated with RAPAS. The c.5219G>A p.(Arg1740Gln) variant is a recurrent variant known to be associated with SETD2-NDD with normal growth without multiple congenital anomlies.