ENSA — 4 ClinVar variants
All ClinVar germline ENSA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 4 flagged for review →
4 Uncertain significance
Full ENSA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 4
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 2
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
Predictors split 2
The independent predictors disagree with each other — read with care.
All ENSA variants
Uncertain significance 4
- p.Ala116Val Single submitter ⚠
- p.Gly26Asp Single submitter ⚠
- p.Lys107Glu Single submitter ⚠
- p.Thr21Met Single submitter ⚠