EIF4E — 25 ClinVar variants
All ClinVar germline EIF4E variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 12 flagged for review →
4 Benign · 5 Likely benign · 16 Uncertain significance
Full EIF4E gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 12
Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.
Predictors lean, ClinVar uncertain 9
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF4E p.Ala29Thr Uncertain significance Single submitter
- EIF4E p.Arg109Leu Uncertain significance Single submitter
- EIF4E p.Asn41Ser Uncertain significance Single submitter
- EIF4E p.Gly196Ser Uncertain significance Single submitter
- EIF4E p.His33Arg Uncertain significance Single submitter
- EIF4E p.Ile193Val Uncertain significance Single submitter
- EIF4E p.Ile195Val Uncertain significance Single submitter
- EIF4E p.Thr168Ser Uncertain significance Single submitter
- EIF4E p.Val194Ala Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All EIF4E variants
Benign 4
- c.540-8del Single submitter
- c.540-8dup Single submitter
- c.18+120T>C No assertion criteria EIF4E-related disorder
- p.Asp125= No assertion criteria EIF4E-related disorder
Likely benign 5
- c.125+16C>G Single submitter
- c.19-7676A>T Single submitter
- c.399+548A>G Single submitter
- p.Leu135= Single submitter
- c.18+10G>T No assertion criteria EIF4E-related disorder
Uncertain significance 16
- c.18+1G>T Single submitter
- c.399+599C>T Single submitter
- p.Ala29Thr Single submitter ⚠
- p.Arg109Leu Single submitter ⚠
- p.Arg181Met Single submitter
- p.Asn41Ser Single submitter ⚠
- p.Glu5Lys Single submitter ⚠
- p.Gly196Ser Single submitter ⚠
- p.His33Arg Single submitter ⚠
- p.Ile193Val Single submitter ⚠
- p.Ile195Val Single submitter ⚠
- p.Ile63Val Single submitter
- p.Leu93Phe Single submitter ⚠
- p.Ser24Cys Single submitter ⚠
- p.Thr168Ser Single submitter ⚠
- p.Val194Ala Single submitter ⚠