Sugi Variant

Sugi Variant/SLC32A1

SLC32A1 — 100 ClinVar variants

All ClinVar germline SLC32A1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →

1 Pathogenic · 2 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 1 Conflicting · 1 Benign · 5 Likely benign · 87 Uncertain significance

Full SLC32A1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 85

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 64

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 SLC32A1 variants

Pathogenic 1

  • p.Leu269Gln No assertion criteria developmental and epileptic encephalopathy 114

Pathogenic/Likely pathogenic 2

  • p.Leu468Pro No assertion criteria generalized epilepsy with febrile seizures plus, type 12
  • p.Met330Thr No assertion criteria generalized epilepsy with febrile seizures plus, type 12

Likely pathogenic 3

Conflicting classifications of pathogenicity 1

  • p.Val263Met Single submitter generalized epilepsy with febrile seizures plus, type 12 ⚠

Benign 1

Likely benign 5

Uncertain significance 87