In contrast, the p.Leu1034Val variant we detected is a missense variant located in exon 26 of UNC13A. While missense variants in UNC13A are not frequently reported in ALS, the p.Pro814Leu variant identified in a patient with dyskinetic movement disorder and autism has been associated with elevated initial synaptic vesicle release likelihood and abnormal short-term synaptic plasticity (41). Here, UNC13A is linked to amyotrophic lateral sclerosis.