Sugi Variant

Sugi Variant/RELA

RELA — 516 ClinVar variants

All ClinVar germline RELA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 208 flagged for review →

28 Pathogenic · 5 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 7 Conflicting · 10 Benign · 11 Benign/Likely benign · 213 Likely benign · 232 Uncertain significance

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

⚑ Evidence disagreements 208

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 2

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 169

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 169

Predictors split 35

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

All RELA variants

Pathogenic 28

Pathogenic/Likely pathogenic 5

  • p.Arg198Ter Multiple submitters autoinflammatory disease, familial, Behcet-like-3
  • p.Arg236Ter Multiple submitters RELA-related disorder
  • p.Arg329Ter Multiple submitters autoinflammatory disease, familial, Behcet-like-3
  • p.Gln372Ter Multiple submitters autoinflammatory disease, familial, Behcet-like-3
  • p.Gln389fs Multiple submitters autoinflammatory disease, familial, Behcet-like-3

Likely pathogenic 10

  • c.1034-2A>C Single submitter Mucocutaneous ulceration
  • c.336-1G>A Single submitter
  • c.35-2A>G Single submitter
  • p.Ala345fs Single submitter RELA-related disorder
  • p.Cys206Ter Single submitter autoinflammatory disease, familial, Behcet-like-3
  • p.Ile110Thr Single submitter childhood-onset schizophrenia ⚠
  • p.Pro10fs Single submitter
  • p.Ser169Ter Single submitter autoinflammatory disease, familial, Behcet-like-3
  • p.Ser437Ter Single submitter autoinflammatory disease, familial, Behcet-like-3
  • p.His88fs No assertion criteria RELA-related disorder

Conflicting classifications of pathogenicity 7

  • c.559+8G>T Single submitter autoinflammatory disease, familial, Behcet-like-3
  • c.959-3C>T Single submitter
  • p.Ala538Val Single submitter ⚠
  • p.Gln442Ter Single submitter Primary immunodeficiency or monogenic inflammatory bowel disease ⚠
  • p.Leu528Ile Single submitter ⚠
  • p.Tyr360= Single submitter autoinflammatory disease, familial, Behcet-like-3
  • p.Val199Ala Single submitter autoinflammatory disease, familial, Behcet-like-3 ⚠

Benign 10

Benign/Likely benign 11

Likely benign 213

Uncertain significance 232