Table 1 Classification of multiple evidences about the novel mutation

Population data

Absent in 50 controls and population databases (PM2)

Computational and predictive data

Predicted null variant (frameshift mutation included) in STK11 where LOF is a mechanism of PJS (PVS1)

Functional data

Not applicable

Segregation data

Cosegregation with PJS (PP1)

De novo data

De novo (without paternity & maternity confirmed) (PM6)

Conclusion

Pathogenic (1 PVS1 and 2 PM and 1 PP)