This variant is predicted to induce nonsense-mediated decay (NMD) of the CHD8-L1 and CHD8-L2 transcripts, and loss of function variants in CHD8 are associated with intellectual developmental disorder with autism and macrocephaly (IDDAM) (OMIM #615032) The variant is absent in unaffected populations listed in gnomADv2-4, with one ClinVar entry classifying it as likely pathogenic (LP) (ClinVar ID: 2439084) and one LOVD entry classifying it as pathogenic (CHD8_000032). This evidence concerns the gene CHD8 and autism.