The current BAFopathy episignature is trained on positive cases with pathogenic variants in ARID1B, ARID1A, SMARCB1, SMARCA2, and SMARCA4. 17 Hence, it is not possible to completely rule out pathogenicity of a variant of another BAF complex gene as for the case with the ARID2 variant. The gene discussed is SMARCA2; the disease is BAFopathy.