Missense as well as loss-of-function variants have been reported. Compound heterozygous and homozygous variants have been described. No genotype-phenotype correlations are established.
Three affected siblings of French origin were compound heterozygous for a nonsense variant c.412C>T; p.(Arg138*) and a missense variant c.727A>G; p.(Thr243Ala) (Kielar et al, 2014).
An affected individual of Moroccan origin was found to be homozygous for the c.673T>C; p.(Trp225Arg) missense variant. This homozygous variant was also identified in an affected fetus of a subsequent pregnancy (Kielar et al, 2014).
A homozygous c.1567C>T, p.(Arg523*) nonsense variant was found in a patient from Saudi Arabia (Shaheen et al, 2017).
A homozygous c.760G>A, p.(Val254Met) missense variant was found in a patient with a Pakistani background (Oegema et al, 2019).
In an individual with a Lebanese background a homozygous deletion of approximately 0.2 Mb was identified at 14q32.2. The deletion resulted in loss of exon 1 of the canonical transcript of the EML1 gene (NM_001008707) (Oegema et al, 2019).
The compound heterozygous missense variants c.1316G>A p.(Gly439Asp) and c.1433G>T p.(Gly478Val) were identified in one affected individual, (Nagaraj et al, 2017. Oegema et al, 2019).
A homozygous missense variant c.692G>A, p.(Gly231Asp) was reported in a patient with a Lebanese background (Markus et al, 2021).
EML1