Sugi Variant

Sugi Variant/TCTN1

TCTN1 — 504 ClinVar variants

All ClinVar germline TCTN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 171 flagged for review →

23 Pathogenic · 9 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 20 Conflicting · 21 Benign · 9 Benign/Likely benign · 204 Likely benign · 190 Uncertain significance

Full TCTN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 171

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 8

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

Predictors lean, ClinVar uncertain 135

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

Predictors split 28

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

All TCTN1 variants

Pathogenic 23

Pathogenic/Likely pathogenic 9

  • c.822+1G>A Multiple submitters TCTN1-related disorder
  • c.978+1G>T Multiple submitters Joubert syndrome 13
  • p.Arg138fs Multiple submitters TCTN1-related disorder
  • p.Asn405fs Multiple submitters Joubert syndrome
  • p.Glu172Ter Multiple submitters TCTN1-related disorder
  • p.His489fs Multiple submitters TCTN1-related disorder
  • p.Lys246Ter Multiple submitters TCTN1-related disorder
  • p.Pro473fs Multiple submitters TCTN1-related disorder
  • p.Val592fs Multiple submitters Meckel syndrome

Likely pathogenic 28

Conflicting classifications of pathogenicity 20

Benign 21

Benign/Likely benign 9

Likely benign 204

Uncertain significance 190