A screen of UNC13D mutations in 30 families with haemophagocytic lymphohistiocytosis and in whom causal PRF1 mutations had not been found. 15 families had mutations in this gene identified. This variant was seen twice, both times compound heterozygously.
Controls are not reported. If 1000 Genomes data (3 variants in 226 alleles) is used, this is case+: 2, case-: 58, control+: 3, control-: 223. This lacks significance.
It seems likely that this variant is actually a nonpathogenic polymorphism, as this disease is rare and the variant is not seen with any significantly increased incidence in Santoro et al’s observations.