EIF1AX — 5 ClinVar variants
All ClinVar germline EIF1AX variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 2 flagged for review →
1 Likely pathogenic · 2 Benign · 2 Uncertain significance
Full EIF1AX gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 2
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All EIF1AX variants
Likely pathogenic 1
- p.Glu99Lys No assertion criteria plasma cell myeloma
Benign 2
- c.101-5G>A Multiple submitters
- p.Asp136= Multiple submitters
Uncertain significance 2
- p.Ala89Thr Single submitter ⚠
- p.Gly6Val Single submitter ⚠