GLI3 variant p.Ile808Met (NM_000168.5:c.2424A>G; ClinVar Variation ID 235210) was originally annotated in UniProtKB/Swiss-Prot as a pathogenic variant causing GCPS, based on small-scale pedigree studies (24) and functional assays showing a deleterious effect of this variant on nuclear localization and transcriptional activity (25). This evidence concerns the gene GLI3 and Greig cephalopolysyndactyly syndrome.