Sugi Variant

Sugi Variant/SLC25A1

SLC25A1 — 242 ClinVar variants

All ClinVar germline SLC25A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 73 flagged for review →

8 Pathogenic · 4 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 7 Conflicting · 9 Benign · 6 Benign/Likely benign · 100 Likely benign · 96 Uncertain significance

Full SLC25A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 73

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 65

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

Predictors split 7

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

All SLC25A1 variants

Pathogenic 8

Pathogenic/Likely pathogenic 4

  • p.Ala274Val Multiple submitters SLC25A1-related disorder
  • p.Arg173fs Multiple submitters D,L-2-hydroxyglutaric aciduria
  • p.Arg282Cys Multiple submitters D,L-2-hydroxyglutaric aciduria
  • p.Glu174Ter Multiple submitters SLC25A1-related disorder

Likely pathogenic 12

Conflicting classifications of pathogenicity 7

Benign 9

Benign/Likely benign 6

Likely benign 100

Uncertain significance 96