TP53 and Li-Fraumeni syndrome: We also identified a missense mutation in A189V in the TP53 gene in a clinically suspected LFS patient (S27), which is registered in ClinVar as “Conflicting interpretations of pathogenicity .” This variant showed relatively high minor allele frequency in East Asian cohorts (1.77 × 10−3 in ToMMo 38KJPN database38, and 5.46 × 10−4 in Korea 1K) compared to worldwide cohorts (6.57 × 10−6 in gnomAD v3.1.234).