Sugi Variant

Sugi Variant/RELT

RELT — 99 ClinVar variants

All ClinVar germline RELT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 67 flagged for review →

4 Pathogenic · 4 Likely pathogenic · 1 Conflicting · 7 Benign · 14 Likely benign · 69 Uncertain significance

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

⚑ Evidence disagreements 67

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 agree, ClinVar conflicts 1

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

Predictors lean, ClinVar uncertain 53

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

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

All RELT variants

Pathogenic 4

  • c.121-2A>G No assertion criteria amelogenesis imperfecta, type 3C
  • p.Arg422Pro No assertion criteria amelogenesis imperfecta, type 3C ⚠
  • p.Pro390fs No assertion criteria amelogenesis imperfecta, type 3C
  • p.Thr55Ile No assertion criteria amelogenesis imperfecta, type 3C ⚠

Likely pathogenic 4

Conflicting classifications of pathogenicity 1

Benign 7

  • p.Ala267= Single submitter
  • p.Met363Val No assertion criteria RELT-related disorder
  • p.Pro201= No assertion criteria RELT-related disorder
  • p.Thr256Met No assertion criteria RELT-related disorder
  • p.Thr360= No assertion criteria RELT-related disorder
  • p.Val367= No assertion criteria RELT-related disorder
  • p.Val367Glu No assertion criteria RELT-related disorder

Likely benign 14

Uncertain significance 69