Interestingly, the NFE2L2 missense variant c.246A > C identified in sample 193_T, is annotated in the catalogue of somatic mutation in cancer (COSMIC database, COSV67960116) as pathogenic in different cancer types including lung adenocarcinoma, renal cell carcinoma and liver carcinoma (Tables 2 and S3). The gene discussed is NFE2L2; the disease is cancer.