Table 2 Classification of multiple evidences about STK11 c.536C > A

Population data

Absent in 50 controls and population databases (ExAC) (PM2)

Computational and predictive data

Multiple lines of computational evidence support a deleterious effect on the gene or gene product (conservation, evolutionary, splicing impact, etc.) (PP3)

Functional data

Missense variant in a gene that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease (PP2)

Segregation data

Cosegregation with PJS (PP1)

De novo data

Not available

Other data

Patient’s phenotype highly specific for gene (PP4)

Conclusion

Likely pathogenic (1 PMs and 4 PPs)