• Disease-associated variant alleles found in DVL3cluster within the penultimate and last exons of the gene, generating a splice site or a −1 frameshift with a premature termination codon (PTC) in the last exon. Recently, a missense variant has been reported as well.
• Nineteen pathogenic/likely pathogenic variants reported in ClinVar (All are in last two exons of the gene except two which are reported in exon 3).
• All the variants are predicted to produce a highly basic, proline-rich C-terminal tail, suggesting those variants create a gain-of-function mutant protein.
DVL3