EIF2S2 — 23 ClinVar variants
All ClinVar germline EIF2S2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Benign · 3 Likely benign · 19 Uncertain significance
Full EIF2S2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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.
- EIF2S2 p.Ala56Gly Uncertain significance Single submitter
- EIF2S2 p.Arg182Gln Uncertain significance Single submitter
- EIF2S2 p.Arg329Cys Uncertain significance Single submitter
- EIF2S2 p.Asn161His Uncertain significance Single submitter
- EIF2S2 p.Asn185Ser Uncertain significance Single submitter
- EIF2S2 p.Asp53Gly Uncertain significance Single submitter
- EIF2S2 p.Glu112Asp Uncertain significance Single submitter
- EIF2S2 p.Glu138Asp Uncertain significance Single submitter
- EIF2S2 p.Leu101Val Uncertain significance Single submitter
- EIF2S2 p.Leu117Val Uncertain significance Single submitter
- EIF2S2 p.Met12Ile Uncertain significance Single submitter
- EIF2S2 p.Met194Ile Uncertain significance Single submitter
- EIF2S2 p.Pro110Ala Uncertain significance Single submitter
- EIF2S2 p.Ser39Leu Uncertain significance Single submitter
- EIF2S2 p.Thr163Ile Uncertain significance Single submitter
- EIF2S2 p.Thr61Ala Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All EIF2S2 variants
Benign 1
- p.Tyr176= Single submitter
Likely benign 3
- p.Arg329= Single submitter
- p.Thr111Ala Single submitter
- p.Val44= Single submitter
Uncertain significance 19
- p.Ala56Gly Single submitter ⚠
- p.Arg182Gln Single submitter ⚠
- p.Arg329Cys Single submitter ⚠
- p.Asn161His Single submitter ⚠
- p.Asn185Ser Single submitter ⚠
- p.Asp53Gly Single submitter ⚠
- p.Glu112Asp Single submitter ⚠
- p.Glu138Asp Single submitter ⚠
- p.Leu101Val Single submitter ⚠
- p.Leu117Val Single submitter ⚠
- p.Lys18fs Single submitter
- p.Met12Ile Single submitter ⚠
- p.Met194Ile Single submitter ⚠
- p.Pro110Ala Single submitter ⚠
- p.Ser170Leu Single submitter
- p.Ser39Leu Single submitter ⚠
- p.Thr163Ile Single submitter ⚠
- p.Thr223Ile Single submitter ⚠
- p.Thr61Ala Single submitter ⚠