Sugi Variant

Sugi Variant/SLC5A2

SLC5A2 — 398 ClinVar variants

All ClinVar germline SLC5A2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 255 flagged for review →

12 Pathogenic · 5 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 25 Conflicting · 6 Benign · 2 Benign/Likely benign · 20 Likely benign · 292 Uncertain significance

Full SLC5A2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 255

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 6

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

Predictors agree, ClinVar conflicts 16

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

Predictors lean, ClinVar uncertain 178

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 178

Predictors split 55

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

All SLC5A2 variants

Pathogenic 12

  • c.1281-1G>A Single submitter familial renal glucosuria
  • p.Leu500fs Single submitter familial renal glucosuria
  • p.Trp429Ter Single submitter familial renal glucosuria
  • p.Tyr128Ter Single submitter familial renal glucosuria
  • p.Val207fs Single submitter familial renal glucosuria
  • c.127-16C>A No assertion criteria familial renal glucosuria
  • c.469-2A>T No assertion criteria familial renal glucosuria
  • p.Ala89Thr No assertion criteria familial renal glucosuria
  • p.Arg479Gly No assertion criteria familial renal glucosuria ⚠
  • p.Phe98Leu No assertion criteria familial renal glucosuria
  • p.Trp440Ter No assertion criteria familial renal glucosuria
  • p.Val431fs No assertion criteria familial renal glucosuria

Pathogenic/Likely pathogenic 5

  • c.1665+1del Multiple submitters SLC5A2-related disorder
  • p.Ala169fs Multiple submitters familial renal glucosuria
  • p.Glu99fs Multiple submitters familial renal glucosuria
  • p.Lys321Arg Multiple submitters SLC5A2-related disorder
  • p.Ala519fs No assertion criteria familial renal glucosuria

Likely pathogenic 36

Conflicting classifications of pathogenicity 25

Benign 6

Benign/Likely benign 2

  • c.1665+13G>A Multiple submitters familial renal glucosuria
  • p.Ala516= Multiple submitters familial renal glucosuria

Likely benign 20

Uncertain significance 292