EEF1AKMT3 — 37 ClinVar variants

All ClinVar germline EEF1AKMT3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 37 flagged for review →

1 Likely benign · 36 Uncertain significance

Full EEF1AKMT3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 37

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 16

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 21

The independent predictors disagree with each other — read with care.

All EEF1AKMT3 variants

Likely benign 1

p.Ile176Thr Single submitter ⚠

Uncertain significance 36

p.Ala126Thr Single submitter ⚠
p.Ala130Gly Single submitter ⚠
p.Ala142Thr Single submitter ⚠
p.Ala54Gly Single submitter ⚠
p.Arg129Cys Single submitter ⚠
p.Arg207Trp Single submitter ⚠
p.Asn143Lys Single submitter ⚠
p.Asn65Ser Single submitter ⚠
p.Asp136Gly Single submitter ⚠
p.Asp73Val Single submitter ⚠
p.Asp99His Single submitter ⚠
p.Cys36Arg Single submitter ⚠
p.Gln111Lys Single submitter ⚠
p.Gln117Lys Single submitter ⚠
p.Gln201His Single submitter ⚠
p.Gln70Glu Single submitter ⚠
p.Glu185Gly Single submitter ⚠
p.Gly164Ala Single submitter ⚠
p.Gly21Arg Single submitter ⚠
p.Gly85Glu Single submitter ⚠
p.Gly97Glu Single submitter ⚠
p.Gly97Val Single submitter ⚠
p.His138Gln Single submitter ⚠
p.His173Gln Single submitter ⚠
p.His194Tyr Single submitter ⚠
p.Ile42Asn Single submitter ⚠
p.Ile42Phe Single submitter ⚠
p.Ile80Phe Single submitter ⚠
p.Leu63Gln Single submitter ⚠
p.Leu82Val Single submitter ⚠
p.Pro197Leu Single submitter ⚠
p.Ser69Thr Single submitter ⚠
p.Tyr177Cys Single submitter ⚠
p.Tyr216Cys Single submitter ⚠
p.Val100Ile Single submitter ⚠
p.Val116Ile Single submitter ⚠