Sugi Variant

Sugi Variant/TRIP12

TRIP12 — 733 ClinVar variants

All ClinVar germline TRIP12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 408 flagged for review →

68 Pathogenic · 4 Pathogenic/Likely pathogenic · 35 Likely pathogenic · 14 Conflicting · 33 Benign · 1 Benign/Likely benign · 139 Likely benign · 439 Uncertain significance

Full TRIP12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 408

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 8

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 257

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 257

Predictors split 141

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

All TRIP12 variants

Pathogenic 68

Pathogenic/Likely pathogenic 4

  • p.Arg1635Gln Multiple submitters Clark-Baraitser syndrome
  • p.Arg1635Ter Multiple submitters Clark-Baraitser syndrome
  • p.Pro134fs Multiple submitters Clark-Baraitser syndrome
  • p.Ser1270fs Multiple submitters Clark-Baraitser syndrome

Likely pathogenic 35

Conflicting classifications of pathogenicity 14

Benign 33

Benign/Likely benign 1

Likely benign 139

Uncertain significance 439

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