EGR1 — 45 ClinVar variants
All ClinVar germline EGR1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
2 Benign · 2 Likely benign · 41 Uncertain significance
Full EGR1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 21
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EGR1 p.Ala102Ser Uncertain significance Single submitter
- EGR1 p.Ala193Ser Uncertain significance Single submitter
- EGR1 p.Ala447Thr Uncertain significance Single submitter
- EGR1 p.Ala524Thr Uncertain significance Single submitter
- EGR1 p.Ala52Val Uncertain significance Single submitter
- EGR1 p.Asp91Asn Uncertain significance Single submitter
- EGR1 p.Gln261Arg Uncertain significance Single submitter
- EGR1 p.Glu94Lys Uncertain significance Single submitter
- EGR1 p.Gly50Asp Uncertain significance Single submitter
- EGR1 p.His358Tyr Uncertain significance Single submitter
- EGR1 p.Ile108Val Uncertain significance Single submitter
- EGR1 p.Leu383His Uncertain significance Single submitter
- EGR1 p.Met29Val Uncertain significance Single submitter
- EGR1 p.Ser172Ala Uncertain significance Single submitter
- EGR1 p.Ser172Thr Uncertain significance Single submitter
- EGR1 p.Ser494Pro Uncertain significance Single submitter
- EGR1 p.Ser64Gly Uncertain significance Single submitter
- EGR1 p.Thr101Ala Uncertain significance Single submitter
- EGR1 p.Thr211Pro Uncertain significance Single submitter
- EGR1 p.Thr534Asn Uncertain significance Single submitter
- EGR1 p.Tyr499Phe Uncertain significance Single submitter
Predictors split 18
The independent predictors disagree with each other — read with care.
- EGR1 p.Arg320Gly Uncertain significance Single submitter
- EGR1 p.Asn376Ser Uncertain significance Single submitter
- EGR1 p.Cys192Gly Uncertain significance Single submitter
- EGR1 p.Glu140Lys Uncertain significance Single submitter
- EGR1 p.Glu152Lys Uncertain significance Single submitter
- EGR1 p.Gly300Val Uncertain significance Single submitter
- EGR1 p.Gly75Asp Uncertain significance Single submitter
- EGR1 p.Leu154Phe Uncertain significance Single submitter
- EGR1 p.Met39Ile Uncertain significance Single submitter
- EGR1 p.Phe105Leu Uncertain significance Single submitter
- EGR1 p.Phe48Leu Uncertain significance Single submitter
- EGR1 p.Pro333His Uncertain significance Single submitter
- EGR1 p.Pro451Leu Uncertain significance Single submitter
- EGR1 p.Pro467Thr Uncertain significance Single submitter
- EGR1 p.Pro493Arg Uncertain significance Single submitter
- EGR1 p.Pro507Leu Uncertain significance Single submitter
- EGR1 p.Ser512Ile Uncertain significance Single submitter
- EGR1 p.Tyr482Cys Uncertain significance Single submitter
All EGR1 variants
Likely benign 2
- p.Ser352= Single submitter
- p.Ser67del Single submitter
Uncertain significance 41
- c.-205G>A Single submitter squamous cell carcinoma
- p.Ala102Ser Single submitter ⚠
- p.Ala193Ser Single submitter ⚠
- p.Ala447Thr Single submitter ⚠
- p.Ala524Thr Single submitter ⚠
- p.Ala52Val Single submitter ⚠
- p.Arg320Gly Single submitter ⚠
- p.Asn376Ser Single submitter ⚠
- p.Asp91Asn Single submitter ⚠
- p.Cys192Gly Single submitter ⚠
- p.Gln261Arg Single submitter ⚠
- p.Glu140Lys Single submitter ⚠
- p.Glu152Lys Single submitter ⚠
- p.Glu94Lys Single submitter ⚠
- p.Gly300Val Single submitter ⚠
- p.Gly50Asp Single submitter ⚠
- p.Gly75Asp Single submitter ⚠
- p.His358Tyr Single submitter ⚠
- p.Ile108Val Single submitter ⚠
- p.Leu154Phe Single submitter ⚠
- p.Leu383His Single submitter ⚠
- p.Met29Val Single submitter ⚠
- p.Met39Ile Single submitter ⚠
- p.Phe105Leu Single submitter ⚠
- p.Phe48Leu Single submitter ⚠
- p.Pro333His Single submitter ⚠
- p.Pro451Leu Single submitter ⚠
- p.Pro467Thr Single submitter ⚠
- p.Pro493Arg Single submitter ⚠
- p.Pro507Leu Single submitter ⚠
- p.Ser172Ala Single submitter ⚠
- p.Ser172Thr Single submitter ⚠
- p.Ser494Pro Single submitter ⚠
- p.Ser512Ile Single submitter ⚠
- p.Ser64Gly Single submitter ⚠
- p.Thr101Ala Single submitter ⚠
- p.Thr211Pro Single submitter ⚠
- p.Thr534Asn Single submitter ⚠
- p.Tyr482Cys Single submitter ⚠
- p.Tyr499Phe Single submitter ⚠
- p.Val470fs Single submitter