Analysis of the leukoencephalopathy panel data of four patients revealed the same homozygous missense variant NM_007055.4: c.2011T>C; p.(Trp671Arg) in exon 15 of POLR3A (10q22.3) that has previously been reported as likely pathogenic according to ACMG/AMP Criteria (PS3, PM2, PM3, PP2, and PP3). The gene discussed is POLR3A; the disease is Leukoencephalopathy.