Sugi Variant

Sugi Variant/RIGI

RIGI — 726 ClinVar variants

All ClinVar germline RIGI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 360 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 24 Conflicting · 26 Benign · 33 Benign/Likely benign · 208 Likely benign · 430 Uncertain significance

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

⚑ Evidence disagreements 360

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 agree, ClinVar conflicts 15

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

Predictors lean, ClinVar uncertain 268

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 268

Predictors split 76

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

All RIGI variants

Pathogenic 2

  • p.Cys268Phe No assertion criteria Singleton-Merten syndrome 2 ⚠
  • p.Glu373Ala No assertion criteria Singleton-Merten syndrome 2

Likely pathogenic 3

Conflicting classifications of pathogenicity 24

Benign 26

Benign/Likely benign 33

Likely benign 208

Uncertain significance 430

Showing the top 300 by review status; the full set is in the sitemap.