Sugi Variant

Sugi Variant/SLC13A3

SLC13A3 — 235 ClinVar variants

All ClinVar germline SLC13A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 105 flagged for review →

2 Pathogenic · 2 Likely pathogenic · 3 Conflicting · 15 Benign · 3 Benign/Likely benign · 79 Likely benign · 131 Uncertain significance

Full SLC13A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 105

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 2

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

Predictors lean, ClinVar uncertain 86

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

Predictors split 17

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

All SLC13A3 variants

Pathogenic 2

  • p.Ala254Asp No assertion criteria leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate ⚠
  • p.Gly548Ser No assertion criteria leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

Likely pathogenic 2

  • c.795-2_796del Single submitter leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate
  • p.Pro493Leu No assertion criteria leukoencephalopathy, acute reversible, with increased urinary alpha-ketoglutarate

Conflicting classifications of pathogenicity 3

Benign 15

Benign/Likely benign 3

Likely benign 79

Uncertain significance 131