EGR3 — 35 ClinVar variants
All ClinVar germline EGR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 25 flagged for review →
4 Benign · 3 Likely benign · 28 Uncertain significance
Full EGR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 25
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- EGR3 p.Ala368Thr Uncertain significance Single submitter
- EGR3 p.Ala6Ser Uncertain significance Single submitter
- EGR3 p.Asn149Thr Uncertain significance Single submitter
- EGR3 p.Asp41Glu Uncertain significance Single submitter
- EGR3 p.Gln131Arg Uncertain significance Single submitter
- EGR3 p.Gly367Ser Uncertain significance Single submitter
- EGR3 p.Gly38Cys Uncertain significance Single submitter
- EGR3 p.Ile57Val Uncertain significance Single submitter
- EGR3 p.Leu292Val Uncertain significance Single submitter
- EGR3 p.Leu68Val Uncertain significance Single submitter
- EGR3 p.Pro132Leu Uncertain significance Single submitter
- EGR3 p.Pro142Ser Uncertain significance Single submitter
- EGR3 p.Pro173Ser Uncertain significance Single submitter
- EGR3 p.Pro200Thr Uncertain significance Single submitter
- EGR3 p.Thr82Pro Uncertain significance Single submitter
- EGR3 p.Tyr70Phe Uncertain significance Single submitter
- EGR3 p.Val137Met Uncertain significance Single submitter
- EGR3 p.Val377Ala Uncertain significance Single submitter
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EGR3 p.Glu347Lys
Uncertain significance
No assertion criteria
EGR3-related disorder
Predictors split 6
The independent predictors disagree with each other — read with care.
- EGR3 p.Asp92Glu Uncertain significance Single submitter
- EGR3 p.Gly244Asp Uncertain significance Single submitter
- EGR3 p.Gly79Val Uncertain significance Single submitter
- EGR3 p.Met13Ile Uncertain significance Single submitter
- EGR3 p.Ser125Phe Uncertain significance Single submitter
- EGR3 p.Ser287Arg Uncertain significance Single submitter
All EGR3 variants
Benign 4
Uncertain significance 28
- c.154+490G>T Single submitter EGR3-related disorder
- p.Ala368Thr Single submitter ⚠
- p.Ala6Ser Single submitter ⚠
- p.Asn149Thr Single submitter ⚠
- p.Asp41Glu Single submitter ⚠
- p.Asp92Glu Single submitter ⚠
- p.Gln131Arg Single submitter ⚠
- p.Gly244Asp Single submitter ⚠
- p.Gly367Ser Single submitter ⚠
- p.Gly38Cys Single submitter ⚠
- p.Gly79Val Single submitter ⚠
- p.Ile57Val Single submitter ⚠
- p.Leu292Val Single submitter ⚠
- p.Leu68Val Single submitter ⚠
- p.Met13Ile Single submitter ⚠
- p.Pro132Leu Single submitter ⚠
- p.Pro142Ser Single submitter ⚠
- p.Pro145Thr Single submitter
- p.Pro173Ser Single submitter ⚠
- p.Pro200Thr Single submitter ⚠
- p.Ser125Phe Single submitter ⚠
- p.Ser287Arg Single submitter ⚠
- p.Thr82Pro Single submitter ⚠
- p.Tyr197Ter Single submitter Neurodevelopmental delay
- p.Tyr70Phe Single submitter ⚠
- p.Val137Met Single submitter ⚠
- p.Val377Ala Single submitter ⚠
- p.Glu347Lys No assertion criteria EGR3-related disorder ⚠