After a clinical ataxia gene panel led to a partial molecular diagnosis of a previously reported synonymous pathogenic variant in ATM, Maroilley T et al. combined SR-GS and transcript analyses to identify a deep-intronic variant and confirm that it results in the aberrant inclusion of 56 base pairs of the intron in the ATM [21] (Table 1). The gene discussed is ATM; the disease is Ataxia.