Sugi Variant

Sugi Variant/TRAF7

TRAF7 — 258 ClinVar variants

All ClinVar germline TRAF7 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 146 flagged for review →

7 Pathogenic · 4 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 6 Conflicting · 9 Benign · 2 Benign/Likely benign · 71 Likely benign · 147 Uncertain significance

Full TRAF7 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 146

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 8

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.

Predictors lean, ClinVar uncertain 81

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

Predictors split 55

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

All TRAF7 variants

Pathogenic 7

  • p.Leu402Val Multiple submitters cardiac, facial, and digital anomalies with developmental delay ⚠
  • p.Ser558Phe Multiple submitters cardiac, facial, and digital anomalies with developmental delay ⚠
  • p.Arg524Gln Single submitter ⚠
  • p.Val646Ile Single submitter cardiac, facial, and digital anomalies with developmental delay ⚠
  • p.Arg371Gly No assertion criteria cardiac, facial, and digital anomalies with developmental delay ⚠
  • p.Lys346Glu No assertion criteria cardiac, facial, and digital anomalies with developmental delay ⚠
  • p.Thr601Ala No assertion criteria cardiac, facial, and digital anomalies with developmental delay ⚠

Pathogenic/Likely pathogenic 4

Likely pathogenic 12

  • p.Arg653Leu Single submitter cardiac, facial, and digital anomalies with developmental delay ⚠
  • p.Glu436Lys Single submitter cardiac, facial, and digital anomalies with developmental delay ⚠
  • p.Glu515del Single submitter cardiac, facial, and digital anomalies with developmental delay
  • p.Gly375Asp Single submitter ⚠
  • p.Gly518Val Single submitter ⚠
  • p.Leu595Val Single submitter cardiac, facial, and digital anomalies with developmental delay
  • p.Leu625Phe Single submitter TRAF7-related disorder
  • p.Met633Ile Single submitter cone-rod synaptic disorder syndrome, congenital nonprogressive ⚠
  • p.Phe617Leu Single submitter cardiac, facial, and digital anomalies with developmental delay ⚠
  • p.Phe617Ser Single submitter TRAF7-related disorder
  • p.Ser663Thr Single submitter TRAF7-related disorder ⚠
  • p.Thr425Ser Single submitter ⚠

Conflicting classifications of pathogenicity 6

  • p.Arg371Gln Single submitter cardiac, facial, and digital anomalies with developmental delay ⚠
  • p.Asp338= Single submitter cardiac, facial, and digital anomalies with developmental delay
  • p.Gly600Ser Single submitter cardiac, facial, and digital anomalies with developmental delay ⚠
  • p.Leu640Pro Single submitter TRAF7-associated heart defect-digital anomalies-facial dysmorphism-motor and speech delay syndrome ⚠
  • p.Lys430Glu Single submitter cardiac, facial, and digital anomalies with developmental delay ⚠
  • p.Pro70Leu Single submitter Inborn genetic diseases ⚠

Benign 9

Benign/Likely benign 2

Likely benign 71

Uncertain significance 147