TUBGCP6 and microcephaly: Homozygous c.1340T>C (p.V447A) variant of unknown clinical significance (VUS) in the TUBGCP6. TUBGCP6 variants cause microcephaly and chorioretinopathy, autosomal recessive, 1 (MCCRP1). Phenotypes include microcephaly, cognitive and visual impairment [46].