This difference was primarily because of a single disease-causing variant in BCS1L NM_001079866.2: c.232A>G; p.(Ser78Gly) associated with GRACILE syndrome.19, 20, 21 This variant has a higher frequency in the European gnomAD (minor allele frequency European = 0.004062, minor allele frequency worldwide = 0.000474). Here, BCS1L is linked to GRACILE syndrome.