EIF5A — 48 ClinVar variants
All ClinVar germline EIF5A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →
5 Pathogenic · 1 Pathogenic/Likely pathogenic · 8 Likely pathogenic · 1 Benign · 8 Likely benign · 25 Uncertain significance
Full EIF5A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 16
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 11
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EIF5A p.Asp111Glu Uncertain significance Single submitter
- EIF5A p.Asp128Asn Uncertain significance Single submitter
-
EIF5A p.Asp96Asn
Uncertain significance
Single submitter
Faundes-Banka syndrome
- EIF5A p.Gly130Arg Uncertain significance Single submitter
-
EIF5A p.Gly13Arg
Uncertain significance
Single submitter
Faundes-Banka syndrome
- EIF5A p.Gly97Ala Uncertain significance Single submitter
- EIF5A p.Ile149Leu Uncertain significance Single submitter
- EIF5A p.Ile84Met Uncertain significance Single submitter
- EIF5A p.Leu138Arg Uncertain significance Single submitter
- EIF5A p.Leu138Met Uncertain significance Single submitter
- EIF5A p.Phe89Tyr Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All EIF5A variants
Pathogenic 5
- p.Gly106Arg Single submitter Faundes-Banka syndrome
- p.Ser46fs Single submitter
- p.Arg109fs No assertion criteria Faundes-Banka syndrome
- p.Arg109Gly No assertion criteria Faundes-Banka syndrome
- p.Thr48Asn No assertion criteria Faundes-Banka syndrome
Pathogenic/Likely pathogenic 1
- p.Arg109Ter Multiple submitters Faundes-Banka syndrome
Likely pathogenic 8
- p.Arg26Pro Multiple submitters neurodevelopmental disorder
- c.165+1G>A Single submitter
- c.270+1G>A Single submitter
- p.Glu42Lys Single submitter
- p.Phe64fs Single submitter Faundes-Banka syndrome
- p.Pro115fs Single submitter
- p.Pro115Ser Single submitter
- p.Ser139Ile Single submitter Faundes-Banka syndrome
Benign 1
- c.166-10A>G Single submitter
Likely benign 8
Uncertain significance 25
- c.69+1G>A Multiple submitters EIF5A-related disorder
- c.166-1G>A Single submitter
- c.-685C>T Single submitter
- c.-6C>T Single submitter
- c.-87T>C Single submitter
- c.*12-3T>G Single submitter
- p.Arg109Gln Single submitter ⚠
- p.Arg113Cys Single submitter ⚠
- p.Arg13Cys Single submitter
- p.Asp111Glu Single submitter ⚠
- p.Asp128Asn Single submitter ⚠
- p.Asp96Asn Single submitter Faundes-Banka syndrome ⚠
- p.Gly130Arg Single submitter ⚠
- p.Gly13Arg Single submitter Faundes-Banka syndrome ⚠
- p.Gly35Val Single submitter ⚠
- p.Gly97Ala Single submitter ⚠
- p.Ile149Leu Single submitter ⚠
- p.Ile72fs Single submitter
- p.Ile84Met Single submitter ⚠
- p.Leu138Arg Single submitter ⚠
- p.Leu138Met Single submitter ⚠
- p.Met20Val Single submitter ⚠
- p.Met79Ile Single submitter ⚠
- p.Phe89Tyr Single submitter ⚠
- p.Tyr98fs Single submitter EIF5A-related disorder