Table 3.

Monogenic Secondary Findings From WGS

Subject Age, yGeneDNA VariantProtein VariantClassificationDisease Association
44F5c.1601G>Ap.Arg534GlnRisk alleleFactor V Leiden Thrombophilia
63EYA4c.1739-1G>ALikely pathogenicPostlingual deafness
55SQSTM1c.1175C>Tp.Pro392LeuLikely pathogenicPaget disease of the bone
62CHEK2c.1100delp.Thr367MetfsX15PathogenicCHEK2-related cancer risk
24APPc.2137G>Ap.Ala713ThrVUS-FPLate-onset alzheimer disease
  • APP indicates amyloid precursor protein; CHEK2, checkpoint kinase 2; EYA4, EYA transcriptional coactivator and phosphatase 4; F5, coagulation factor 5; SQSTM1, sequestosome 1; VUS-FP, variant of uncertain significance-favor pathogenic; and WGS, whole genome sequencing.