Sugi Variant

Sugi Variant/TUBGCP4

TUBGCP4 — 563 ClinVar variants

All ClinVar germline TUBGCP4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 153 flagged for review →

28 Pathogenic · 6 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 11 Conflicting · 34 Benign · 13 Benign/Likely benign · 290 Likely benign · 172 Uncertain significance

Full TUBGCP4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 153

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 5

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 120

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

Predictors split 27

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

All TUBGCP4 variants

Pathogenic 28

Pathogenic/Likely pathogenic 6

  • c.889+2T>C Multiple submitters TUBGCP4-related disorder
  • p.Arg260Ter Multiple submitters microcephaly and chorioretinopathy 3
  • p.Arg551Ter Multiple submitters TUBGCP4-related disorder
  • p.Gln75Ter Multiple submitters
  • p.Gly194fs Multiple submitters TUBGCP4-related disorder
  • p.Leu582= Multiple submitters Autosomal recessive chorioretinopathy-microcephaly syndrome

Likely pathogenic 9

Conflicting classifications of pathogenicity 11

Benign 34

Benign/Likely benign 13

Likely benign 290

Uncertain significance 172