EIF3D — 30 ClinVar variants
All ClinVar germline EIF3D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 22 flagged for review →
4 Benign · 1 Likely benign · 25 Uncertain significance
Full EIF3D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 22
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.
- EIF3D p.Ala92Val Uncertain significance Single submitter
- EIF3D p.Arg222His Uncertain significance Single submitter
- EIF3D p.Arg26Gln Uncertain significance Single submitter
- EIF3D p.Arg410His Uncertain significance Single submitter
- EIF3D p.Arg492Cys Uncertain significance Single submitter
- EIF3D p.Asp368Asn Uncertain significance Single submitter
- EIF3D p.Gln89Glu Uncertain significance Single submitter
- EIF3D p.Glu533Gly Uncertain significance Single submitter
- EIF3D p.Ile134Thr Uncertain significance Single submitter
- EIF3D p.Ile220Val Uncertain significance Single submitter
- EIF3D p.Ile495Thr Uncertain significance Single submitter
- EIF3D p.Ile9Met Uncertain significance Single submitter
- EIF3D p.Lys149Arg Uncertain significance Single submitter
- EIF3D p.Thr88Pro Uncertain significance Single submitter
- EIF3D p.Val407Ile Uncertain significance Single submitter
- EIF3D p.Val457Met Uncertain significance Single submitter
Predictors split 6
The independent predictors disagree with each other — read with care.
- EIF3D p.Arg165Gly Uncertain significance Single submitter
- EIF3D p.Asp378Asn Uncertain significance Single submitter
- EIF3D p.Pro32Leu Uncertain significance Single submitter
- EIF3D p.Pro340Arg Uncertain significance Single submitter
- EIF3D p.Thr294Ala Uncertain significance Single submitter
- EIF3D p.Val269Ile Uncertain significance Single submitter
All EIF3D variants
Benign 4
- c.711+7G>A Multiple submitters
- c.712-10C>T Multiple submitters
- p.Pro233= Multiple submitters
- c.124-5C>T Single submitter
Likely benign 1
- p.Trp16Ter No assertion criteria EBV-positive nodal T- and NK-cell lymphoma
Uncertain significance 25
- c.1077-1G>C Single submitter
- p.Ala92Val Single submitter ⚠
- p.Arg165Gly Single submitter ⚠
- p.Arg222His Single submitter ⚠
- p.Arg26Gln Single submitter ⚠
- p.Arg410His Single submitter ⚠
- p.Arg492Cys Single submitter ⚠
- p.Asp368Asn Single submitter ⚠
- p.Asp378Asn Single submitter ⚠
- p.Cys195Arg Single submitter
- p.Gln89Glu Single submitter ⚠
- p.Glu533Gly Single submitter ⚠
- p.Ile134Thr Single submitter ⚠
- p.Ile220Val Single submitter ⚠
- p.Ile495Thr Single submitter ⚠
- p.Ile9Met Single submitter ⚠
- p.Lys149Arg Single submitter ⚠
- p.Pro32Leu Single submitter ⚠
- p.Pro340Arg Single submitter ⚠
- p.Ser14fs Single submitter
- p.Thr294Ala Single submitter ⚠
- p.Thr88Pro Single submitter ⚠
- p.Val269Ile Single submitter ⚠
- p.Val407Ile Single submitter ⚠
- p.Val457Met Single submitter ⚠