EOLA1 — 4 ClinVar variants
All ClinVar germline EOLA1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 3 flagged for review →
1 Likely benign · 3 Uncertain significance
Full EOLA1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 3
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 3
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
All EOLA1 variants
Likely benign 1
- c.254-8G>C Single submitter
Uncertain significance 3
- p.Cys37Tyr Single submitter ⚠
- p.Gly155Glu Single submitter ⚠
- p.Leu31Pro Single submitter ⚠