Sugi Variant

Sugi Variant/TTC12

TTC12 — 154 ClinVar variants

All ClinVar germline TTC12 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 85 flagged for review →

6 Pathogenic · 2 Conflicting · 34 Benign · 22 Likely benign · 90 Uncertain significance

Full TTC12 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 85

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 61

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

Predictors split 23

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

All TTC12 variants

Pathogenic 6

  • p.Arg95Ter Single submitter Inborn genetic diseases
  • p.Asp490fs Single submitter Reduced sperm motility
  • c.1614+3A>T No assertion criteria ciliary dyskinesia, primary, 45
  • p.Arg560Ter No assertion criteria ciliary dyskinesia, primary, 45
  • p.Glu202_Ile203insTer No assertion criteria ciliary dyskinesia, primary, 45
  • p.Met567Arg No assertion criteria ciliary dyskinesia, primary, 45

Conflicting classifications of pathogenicity 2

Benign 34

Likely benign 22

Uncertain significance 90