ERGIC1 — 40 ClinVar variants
All ClinVar germline ERGIC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 30 flagged for review →
1 Pathogenic · 1 Likely pathogenic · 2 Benign · 6 Likely benign · 30 Uncertain significance
Full ERGIC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 30
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ERGIC1 p.Ala228Glu Uncertain significance Single submitter
- ERGIC1 p.Ala267Thr Uncertain significance Single submitter
- ERGIC1 p.Arg116Cys Uncertain significance Single submitter
- ERGIC1 p.Arg232His Uncertain significance Single submitter
- ERGIC1 p.Asp186Asn Uncertain significance Single submitter
- ERGIC1 p.Gly262Arg Uncertain significance Single submitter
- ERGIC1 p.Gly94Asp Uncertain significance Single submitter
- ERGIC1 p.His81Tyr Uncertain significance Single submitter
- ERGIC1 p.Ile191Met Uncertain significance Single submitter
- ERGIC1 p.Ile229Val Uncertain significance Single submitter
- ERGIC1 p.Met105Thr Uncertain significance Single submitter
- ERGIC1 p.Pro61Thr Uncertain significance Single submitter
- ERGIC1 p.Ser104Phe Uncertain significance Single submitter
Predictors split 17
The independent predictors disagree with each other — read with care.
- ERGIC1 p.Ala218Thr Likely benign Single submitter
- ERGIC1 p.Arg246Trp Uncertain significance Single submitter
- ERGIC1 p.Asn180Ser Uncertain significance Single submitter
- ERGIC1 p.Asp102Ala Uncertain significance Single submitter
- ERGIC1 p.Asp102Asn Uncertain significance Single submitter
- ERGIC1 p.Gln142Arg Uncertain significance Single submitter
- ERGIC1 p.His81Leu Uncertain significance Single submitter
- ERGIC1 p.Ile225Leu Uncertain significance Single submitter
- ERGIC1 p.Ile260Thr Uncertain significance Single submitter
- ERGIC1 p.Pro108Leu Uncertain significance Single submitter
- ERGIC1 p.Ser42Leu Uncertain significance Single submitter
- ERGIC1 p.Thr147Met Uncertain significance Single submitter
- ERGIC1 p.Thr243Ala Uncertain significance Single submitter
- ERGIC1 p.Thr255Met Uncertain significance Single submitter
- ERGIC1 p.Tyr196Phe Uncertain significance Single submitter
- ERGIC1 p.Val132Met Uncertain significance Single submitter
- ERGIC1 p.Val217Gly Uncertain significance Single submitter
All ERGIC1 variants
Pathogenic 1
- p.Val98Glu No assertion criteria arthrogryposis multiplex congenita 2, neurogenic type
Likely pathogenic 1
- p.Gly261Asp No assertion criteria Flexion contracture
Benign 2
- c.375+128C>T Single submitter
- p.Arg204= Single submitter
Likely benign 6
- c.375+758C>T Single submitter
- p.Ala218Thr Single submitter ⚠
- p.Arg12= Single submitter
- c.643-5C>T No assertion criteria ERGIC1-related disorder
- c.766-9C>T No assertion criteria ERGIC1-related disorder
- p.Leu171= No assertion criteria ERGIC1-related disorder
Uncertain significance 30
- c.155+1G>A Single submitter arthrogryposis multiplex congenita 2, neurogenic type
- p.Ala228Glu Single submitter ⚠
- p.Ala267Thr Single submitter ⚠
- p.Arg116Cys Single submitter ⚠
- p.Arg232His Single submitter ⚠
- p.Arg246Trp Single submitter ⚠
- p.Asn180Ser Single submitter ⚠
- p.Asp102Ala Single submitter ⚠
- p.Asp102Asn Single submitter ⚠
- p.Asp186Asn Single submitter ⚠
- p.Gln142Arg Single submitter ⚠
- p.Gly262Arg Single submitter ⚠
- p.Gly94Asp Single submitter ⚠
- p.His81Leu Single submitter ⚠
- p.His81Tyr Single submitter ⚠
- p.Ile191Met Single submitter ⚠
- p.Ile225Leu Single submitter ⚠
- p.Ile229Val Single submitter ⚠
- p.Ile260Thr Single submitter ⚠
- p.Met105Thr Single submitter ⚠
- p.Pro108Leu Single submitter ⚠
- p.Pro61Thr Single submitter ⚠
- p.Ser104Phe Single submitter ⚠
- p.Ser42Leu Single submitter ⚠
- p.Thr147Met Single submitter ⚠
- p.Thr243Ala Single submitter ⚠
- p.Thr255Met Single submitter ⚠
- p.Tyr196Phe Single submitter ⚠
- p.Val132Met Single submitter ⚠
- p.Val217Gly Single submitter ⚠