EIF4A2 — 92 ClinVar variants
All ClinVar germline EIF4A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →
6 Pathogenic · 3 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 3 Benign · 9 Likely benign · 61 Uncertain significance
Full EIF4A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 38
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 vs ClinVar 1
ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.
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EIF4A2 p.Ser2Cys
Likely pathogenic
No assertion criteria
neurodevelopmental disorder
Predictors lean, ClinVar uncertain 24
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
-
EIF4A2 p.Ile278Thr
Uncertain significance
Multiple submitters
Inborn genetic diseases
-
EIF4A2 p.Ala6Thr
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF4A2 p.Arg325Cys Uncertain significance Single submitter
-
EIF4A2 p.Arg335His
Uncertain significance
Single submitter
EIF4A2-related Neurodevelopmental Syndrome
- EIF4A2 p.Arg354Cys Uncertain significance Single submitter
- EIF4A2 p.Asp231Tyr Uncertain significance Single submitter
- EIF4A2 p.Asp297Tyr Uncertain significance Single submitter
- EIF4A2 p.Asp37Val Uncertain significance Single submitter
-
EIF4A2 p.Gln249Glu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A2 p.Glu98Asp
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A2 p.Ile155Thr
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A2 p.Ile315Thr
Uncertain significance
Single submitter
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
- EIF4A2 p.Ile374Leu Uncertain significance Single submitter
-
EIF4A2 p.Ile97Val
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF4A2 p.Leu122Arg Uncertain significance Single submitter
- EIF4A2 p.Leu44His Uncertain significance Single submitter
- EIF4A2 p.Lys175Glu Uncertain significance Single submitter
-
EIF4A2 p.Lys382Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A2 p.Phe99Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF4A2 p.Ser343Phe Uncertain significance Single submitter
-
EIF4A2 p.Ser343Pro
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF4A2 p.Thr86Pro Uncertain significance Single submitter
-
EIF4A2 p.Tyr8His
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF4A2 p.Val106Ala Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- EIF4A2 p.Ala123Val Uncertain significance Single submitter
- EIF4A2 p.Ala134Ser Uncertain significance Single submitter
-
EIF4A2 p.Ala302Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF4A2 p.Arg386Cys Uncertain significance Single submitter
-
EIF4A2 p.Asn27Ser
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF4A2 p.Asp7Val Uncertain significance Single submitter
-
EIF4A2 p.Ile117Val
Uncertain significance
Single submitter
neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
- EIF4A2 p.Met128Ile Uncertain significance Single submitter
-
EIF4A2 p.Pro153Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A2 p.Ser2Phe
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A2 p.Ser5Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A2 p.Thr390Ile
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF4A2 p.Val300Ile Uncertain significance Single submitter
All EIF4A2 variants
Pathogenic 6
- p.Gly362Ser Multiple submitters Inborn genetic diseases
- p.Glu144fs Single submitter neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
- p.Thr216Ala Single submitter neurodevelopmental disorder
- p.Thr216Ile Single submitter neurodevelopmental disorder
- p.Arg62fs No assertion criteria neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
- p.Asp387_Ile388del No assertion criteria neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
Pathogenic/Likely pathogenic 3
- p.Gly364Glu No assertion criteria Neurodevelopmental delay
- p.Leu344Phe No assertion criteria neurodevelopmental disorder
- p.Thr243Ile No assertion criteria neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
Likely pathogenic 10
- c.517+1G>T Single submitter neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
- p.Asp338Tyr Single submitter Inborn genetic diseases
- p.Gly161Arg Single submitter
- p.Gly161Trp Single submitter neurodevelopmental disorder
- p.Leu44fs Single submitter neurodevelopmental disorder
- p.Ser79fs Single submitter neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
- p.Asp37del No assertion criteria neurodevelopmental disorder
- p.Ile315del No assertion criteria neurodevelopmental disorder
- p.Ser214Tyr No assertion criteria neurodevelopmental disorder
- p.Ser2Cys No assertion criteria neurodevelopmental disorder ⚠
Benign 3
- c.518-7C>T No assertion criteria EIF4A2-related disorder
- c.772-3C>T No assertion criteria EIF4A2-related disorder
- p.Lys248= No assertion criteria EIF4A2-related disorder
Likely benign 9
- p.Ile97= Single submitter
- p.Leu44= Single submitter
- p.Ser2= Single submitter
- c.209-3dup No assertion criteria EIF4A2-related disorder
- c.771+5C>T No assertion criteria EIF4A2-related disorder
- c.-8T>C No assertion criteria EIF4A2-related disorder
- p.Phe376= No assertion criteria EIF4A2-related disorder
- p.Tyr8= No assertion criteria EIF4A2-related disorder
- p.Val141= No assertion criteria EIF4A2-related disorder
Uncertain significance 61
- p.Ile278Thr Multiple submitters Inborn genetic diseases ⚠
- c.349-8G>A Single submitter
- c.999+2T>C Single submitter
- p.Ala123Val Single submitter ⚠
- p.Ala134Ser Single submitter ⚠
- p.Ala302Ser Single submitter Inborn genetic diseases ⚠
- p.Ala6Thr Single submitter Inborn genetic diseases ⚠
- p.Arg312fs Single submitter
- p.Arg325Cys Single submitter ⚠
- p.Arg335His Single submitter EIF4A2-related Neurodevelopmental Syndrome ⚠
- p.Arg354Cys Single submitter ⚠
- p.Arg366Ter Single submitter
- p.Arg386Cys Single submitter ⚠
- p.Asn143_Glu144insGlyGlyThrAsnValArgAsn Single submitter Inborn genetic diseases
- p.Asn27Ser Single submitter Inborn genetic diseases ⚠
- p.Asn39_Leu40insTer Single submitter
- p.Asp231Tyr Single submitter ⚠
- p.Asp297Tyr Single submitter ⚠
- p.Asp37Val Single submitter ⚠
- p.Asp7Val Single submitter ⚠
- p.Gln249fs Single submitter
- p.Gln249Glu Single submitter Inborn genetic diseases ⚠
- p.Glu112Ter Single submitter
- p.Glu98_Phe99del Single submitter
- p.Glu98Asp Single submitter Inborn genetic diseases ⚠
- p.Gly364fs Single submitter
- p.His133= Single submitter
- p.Ile117Val Single submitter neurodevelopmental disorder with hypotonia and speech delay, with or without seizures ⚠
- p.Ile155Thr Single submitter Inborn genetic diseases ⚠
- p.Ile208fs Single submitter
- p.Ile315Thr Single submitter neurodevelopmental disorder with hypotonia and speech delay, with or without seizures ⚠
- p.Ile374Leu Single submitter ⚠
- p.Ile97Val Single submitter Inborn genetic diseases ⚠
- p.Leu122Arg Single submitter ⚠
- p.Leu327fs Single submitter
- p.Leu44His Single submitter ⚠
- p.Lys175Glu Single submitter ⚠
- p.Lys248fs Single submitter
- p.Lys310del Single submitter Inborn genetic diseases
- p.Lys382Arg Single submitter Inborn genetic diseases ⚠
- p.Lys382fs Single submitter Inborn genetic diseases
- p.Met128Ile Single submitter ⚠
- p.Met1fs Single submitter EIF4A2-related disorder
- p.Met1Leu Single submitter
- p.Phe99Leu Single submitter Inborn genetic diseases ⚠
- p.Pro153Ser Single submitter Inborn genetic diseases ⚠
- p.Ser2Phe Single submitter Inborn genetic diseases ⚠
- p.Ser301fs Single submitter
- p.Ser343Phe Single submitter ⚠
- p.Ser343Pro Single submitter Inborn genetic diseases ⚠
- p.Ser5Cys Single submitter Inborn genetic diseases ⚠
- p.Thr270fs Single submitter neurodevelopmental disorder with hypotonia and speech delay, with or without seizures
- p.Thr299fs Single submitter
- p.Thr390Ile Single submitter Inborn genetic diseases ⚠
- p.Thr86Pro Single submitter ⚠
- p.Tyr8His Single submitter Inborn genetic diseases ⚠
- p.Val106Ala Single submitter ⚠
- p.Val237= Single submitter
- p.Val300Ile Single submitter ⚠
- p.Glu257fs No assertion criteria EIF4A2-related disorder
- p.Leu172fs No assertion criteria EIF4A2-related disorder