Sugi Variant

Sugi Variant/SLC1A3

SLC1A3 — 345 ClinVar variants

All ClinVar germline SLC1A3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 149 flagged for review →

2 Pathogenic · 17 Conflicting · 47 Benign · 23 Benign/Likely benign · 65 Likely benign · 191 Uncertain significance

Full SLC1A3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 149

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 9

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

Predictors lean, ClinVar uncertain 120

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

Predictors split 20

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

All SLC1A3 variants

Pathogenic 2

  • p.Cys186Ser No assertion criteria episodic ataxia type 6
  • p.Pro290Arg No assertion criteria episodic ataxia type 6

Conflicting classifications of pathogenicity 17

Benign 47

Benign/Likely benign 23

Likely benign 65

Uncertain significance 191