variant of uncertain significance

Warsaw Breakage Syndrome (WABS) is a rare autosomal recessive chromosome instability disorder caused by biallelic pathogenic variants in DDX11 [1]. It is characterised by growth restriction, microcephaly, intellectual disability and sensorineural hearing loss [1,4,5]. We report a 21-year-old Sudanese woman with severe proportionate short stature, microcephaly, intellectual disability, hearing loss and pigmentary skin changes. Genetic testing identified a homozygous DDX11 missense variant (c.707A>G; p.His236Arg), classified as a variant of uncertain significance (VUS). Despite uncertain classification, the phenotype is highly suggestive of WABS. This case highlights the importance of clinical correlation in interpreting VUS findings in rare cohesinopathies [5,8].