EIF4A3 — 43 ClinVar variants
All ClinVar germline EIF4A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
3 Pathogenic · 1 Conflicting · 4 Benign · 9 Likely benign · 26 Uncertain significance
Full EIF4A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 17
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
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EIF4A3 p.Ala13Val
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF4A3 p.Ala377Asp Uncertain significance Single submitter
-
EIF4A3 p.Arg16Pro
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Arg172Cys
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Arg238His
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Arg238Leu
Uncertain significance
Single submitter
Inborn genetic diseases
- EIF4A3 p.Arg316Trp Uncertain significance Single submitter
-
EIF4A3 p.Arg51Trp
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Gly11Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Ile237Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Lys25Arg
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Met183Ile
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Ser10Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Ser12Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Ser318Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Thr4Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Thr9Ala
Uncertain significance
Single submitter
Inborn genetic diseases
Predictors split 9
The independent predictors disagree with each other — read with care.
- EIF4A3 p.Ala55Thr Uncertain significance Single submitter
-
EIF4A3 p.Asn145Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Gln66Lys
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Ile251Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Ile69Val
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Pro312Ser
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Ser325Leu
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Thr144Ala
Uncertain significance
Single submitter
Inborn genetic diseases
-
EIF4A3 p.Thr9Ile
Uncertain significance
Single submitter
Inborn genetic diseases
All EIF4A3 variants
Pathogenic 3
- c.-98_-81del18insTCGGCAGCGGCACAGCGAGG[10] No assertion criteria Richieri Costa-Pereira syndrome
- c.-98_-81delinsTCGGCAGCGGCACAGCGAGG[13] No assertion criteria Richieri Costa-Pereira syndrome
- p.Asp270Gly No assertion criteria Richieri Costa-Pereira syndrome
Conflicting classifications of pathogenicity 1
- c.587-5C>G Single submitter Inborn genetic diseases
Benign 4
Likely benign 9
- c.984-10C>G Single submitter
- p.Asn301= Single submitter
- p.Asp384= Single submitter
- p.Gly44= Single submitter
- p.Leu354= Single submitter
- p.Pro38= Single submitter
- p.Asp270= No assertion criteria EIF4A3-related disorder
- p.Thr286= No assertion criteria EIF4A3-related disorder
- p.Val185= No assertion criteria EIF4A3-related disorder
Uncertain significance 26
- p.Ala13Val Single submitter Inborn genetic diseases ⚠
- p.Ala377Asp Single submitter ⚠
- p.Ala55Thr Single submitter ⚠
- p.Arg16Pro Single submitter Inborn genetic diseases ⚠
- p.Arg172Cys Single submitter Inborn genetic diseases ⚠
- p.Arg238His Single submitter Inborn genetic diseases ⚠
- p.Arg238Leu Single submitter Inborn genetic diseases ⚠
- p.Arg316Trp Single submitter ⚠
- p.Arg51Trp Single submitter Inborn genetic diseases ⚠
- p.Asn145Ser Single submitter Inborn genetic diseases ⚠
- p.Gln66Lys Single submitter Inborn genetic diseases ⚠
- p.Gly11Arg Single submitter Inborn genetic diseases ⚠
- p.Ile237Val Single submitter Inborn genetic diseases ⚠
- p.Ile251Val Single submitter Inborn genetic diseases ⚠
- p.Ile69Val Single submitter Inborn genetic diseases ⚠
- p.Lys25Arg Single submitter Inborn genetic diseases ⚠
- p.Met183Ile Single submitter Inborn genetic diseases ⚠
- p.Pro312Ser Single submitter Inborn genetic diseases ⚠
- p.Ser10Leu Single submitter Inborn genetic diseases ⚠
- p.Ser12Leu Single submitter Inborn genetic diseases ⚠
- p.Ser318Ala Single submitter Inborn genetic diseases ⚠
- p.Ser325Leu Single submitter Inborn genetic diseases ⚠
- p.Thr144Ala Single submitter Inborn genetic diseases ⚠
- p.Thr4Ala Single submitter Inborn genetic diseases ⚠
- p.Thr9Ala Single submitter Inborn genetic diseases ⚠
- p.Thr9Ile Single submitter Inborn genetic diseases ⚠