In the ALS series, only one patient carried a KIF5A variant, a novel c.3017 A > G/p.N1006S substitution classified as likely pathogenic according to the ACMG criteria [19]: it is absent in population databases (gnomAD, TOPMed, 1000 Genomes (PM2)), and, most importantly, it is predicted by different tools to cause aberrant splicing (PP3). The gene discussed is KIF5A; the disease is amyotrophic lateral sclerosis.