Sugi Variant

Sugi Variant/TCTN3

TCTN3 — 539 ClinVar variants

All ClinVar germline TCTN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 203 flagged for review →

28 Pathogenic · 13 Pathogenic/Likely pathogenic · 26 Likely pathogenic · 11 Conflicting · 25 Benign · 8 Benign/Likely benign · 198 Likely benign · 230 Uncertain significance

Full TCTN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 203

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 5

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

Predictors lean, ClinVar uncertain 164

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 164

Predictors split 33

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

All TCTN3 variants

Pathogenic 28

  • c.257-1G>A Single submitter orofaciodigital syndrome IV
  • p.Ala307fs Single submitter Joubert syndrome 18
  • p.Arg475fs Single submitter orofaciodigital syndrome IV
  • p.Gln10Ter Single submitter Joubert syndrome 18
  • p.Gln357fs Single submitter Joubert syndrome 18
  • p.Glu193Ter Single submitter Joubert syndrome 18
  • p.Glu457fs Single submitter Joubert syndrome 18
  • p.Gly124fs Single submitter Joubert syndrome 18
  • p.Gly409fs Single submitter Joubert syndrome 18
  • p.Leu238fs Single submitter Joubert syndrome 18
  • p.Leu248fs Single submitter Joubert syndrome 18
  • p.Leu303fs Single submitter Joubert syndrome 18
  • p.Leu450fs Single submitter Joubert syndrome 18
  • p.Met1Lys Single submitter Joubert syndrome 18
  • p.Met1Thr Single submitter Joubert syndrome 18
  • p.Pro22fs Single submitter Joubert syndrome 18
  • p.Ser203fs Single submitter Joubert syndrome 18
  • p.Ser206fs Single submitter Joubert syndrome and related disorders
  • p.Ser252fs Single submitter Joubert syndrome 18
  • p.Ser265fs Single submitter Joubert syndrome 18
  • p.Thr403fs Single submitter Joubert syndrome 18
  • p.Trp221Ter Single submitter Joubert syndrome 18
  • p.Val138fs Single submitter Joubert syndrome 18
  • p.Val285fs Single submitter Joubert syndrome 18
  • c.853-1G>T No assertion criteria Joubert syndrome 18
  • p.Gln408Ter No assertion criteria orofaciodigital syndrome IV
  • p.Glu189fs No assertion criteria orofaciodigital syndrome IV
  • p.Gly314Arg No assertion criteria Joubert syndrome 18 ⚠

Pathogenic/Likely pathogenic 13

Likely pathogenic 26

Conflicting classifications of pathogenicity 11

Benign 25

Benign/Likely benign 8

  • c.500-6T>C Multiple submitters Inborn genetic diseases
  • c.889-8G>A Multiple submitters orofaciodigital syndrome IV
  • p.Ala210= Multiple submitters orofaciodigital syndrome IV
  • p.Ala426= Multiple submitters orofaciodigital syndrome IV
  • p.Asp108= Multiple submitters orofaciodigital syndrome IV
  • p.Gly344Arg Multiple submitters orofaciodigital syndrome IV
  • p.Leu311= Multiple submitters Joubert syndrome 18
  • p.Thr65Pro Multiple submitters orofaciodigital syndrome IV

Likely benign 198

Uncertain significance 230