Sugi Variant

Sugi Variant/TRIP4

TRIP4 — 313 ClinVar variants

All ClinVar germline TRIP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 126 flagged for review →

20 Pathogenic · 5 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 5 Conflicting · 23 Benign · 8 Benign/Likely benign · 110 Likely benign · 132 Uncertain significance

Full TRIP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 126

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 4

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

Predictors lean, ClinVar uncertain 101

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

Predictors split 20

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

All TRIP4 variants

Pathogenic 20

Pathogenic/Likely pathogenic 5

  • p.Arg309Ter Multiple submitters TRIP4-related disorder
  • p.Arg466Ter Multiple submitters
  • p.Gln113fs Multiple submitters spinal muscular atrophy with congenital bone fractures 1
  • p.Gly61fs Multiple submitters TRIP4-related disorder
  • p.Arg254Ter No assertion criteria spinal muscular atrophy with congenital bone fractures 1

Likely pathogenic 10

  • c.272-1G>T Multiple submitters TRIP4-related disorder
  • p.Thr487fs Multiple submitters TRIP4-related disorder
  • c.1484-2A>C Single submitter
  • c.1484-2A>G Single submitter spinal muscular atrophy with congenital bone fractures 1
  • c.697+2T>G Single submitter
  • c.827+1G>T Single submitter
  • p.Gln18Ter Single submitter TRIP4-related disorder
  • p.Gln296Ter Single submitter spinal muscular atrophy with congenital bone fractures 1
  • c.1359_1575del No assertion criteria spinal muscular atrophy with congenital bone fractures 1
  • p.Gln419Ter No assertion criteria spinal muscular atrophy with congenital bone fractures 1

Conflicting classifications of pathogenicity 5

Benign 23

Benign/Likely benign 8

Likely benign 110

Uncertain significance 132