Sugi Variant

Sugi Variant/SLC25A11

SLC25A11 — 95 ClinVar variants

All ClinVar germline SLC25A11 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 38 flagged for review →

5 Pathogenic · 4 Conflicting · 3 Benign · 1 Benign/Likely benign · 38 Likely benign · 44 Uncertain significance

Full SLC25A11 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 38

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 31

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 6

The independent predictors disagree with each other — read with care.

All SLC25A11 variants

Pathogenic 5

  • p.Ala236= No assertion criteria pheochromocytoma/paraganglioma syndrome 6
  • p.Glu141Lys No assertion criteria pheochromocytoma/paraganglioma syndrome 6
  • p.Met147Val No assertion criteria pheochromocytoma/paraganglioma syndrome 6
  • p.Pro239Thr No assertion criteria pheochromocytoma/paraganglioma syndrome 6
  • p.Thr36fs No assertion criteria pheochromocytoma/paraganglioma syndrome 6

Conflicting classifications of pathogenicity 4

Benign 3

Benign/Likely benign 1

Likely benign 38

Uncertain significance 44