Overall, ATM LOF variants were observed in approximately 1% of the melanoma cases in our study cohort (0.95% in the whole cohort, 1.08% in FAM + MPM cases and 0.7% in sporadic cases), more than in gnomAD NFE samples (0.36%), and approximately less than that reported for the known moderate melanoma risk variant MITF p.Glu318Lys, which ranges between 1.8% and 3.6% across different studies [32–35]. The gene discussed is ATM; the disease is melanoma.