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Table 1 Classification of multiple evidences about the novel mutation

From: Early screening the small bowel is key to protect Peutz-Jeghers syndrome patients from surgery: a novel mutation c.243delG in STK11 gene

Evidences

c.243delG

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)