Sugi Variant

Sugi Variant/RNF31

RNF31 — 867 ClinVar variants

All ClinVar germline RNF31 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 416 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 12 Conflicting · 13 Benign · 12 Benign/Likely benign · 371 Likely benign · 456 Uncertain significance

Full RNF31 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 416

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 10

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

Predictors lean, ClinVar uncertain 348

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 348

Predictors split 57

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

All RNF31 variants

Pathogenic 2

  • p.Gln399His No assertion criteria immunodeficiency 115 with autoinflammation ⚠
  • p.Leu72Pro No assertion criteria immunodeficiency 115 with autoinflammation

Likely pathogenic 1

Conflicting classifications of pathogenicity 12

Benign 13

Benign/Likely benign 12

Likely benign 371

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

Uncertain significance 456

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