Sugi Variant

Sugi Variant/TUBGCP2

TUBGCP2 — 199 ClinVar variants

All ClinVar germline TUBGCP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 118 flagged for review →

1 Pathogenic · 6 Conflicting · 8 Benign · 3 Benign/Likely benign · 56 Likely benign · 125 Uncertain significance

Full TUBGCP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 118

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.

Predictors lean, ClinVar uncertain 100

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

Predictors split 13

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

All TUBGCP2 variants

Pathogenic 1

  • c.2025-2A>G No assertion criteria pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures

Conflicting classifications of pathogenicity 6

  • p.Ala796Thr Single submitter ⚠
  • p.Asp369fs Single submitter pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
  • p.Glu413Lys Single submitter ⚠
  • p.Pro891Leu Single submitter pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ⚠
  • p.Ala382Val No assertion criteria TUBGCP2-related disorder ⚠
  • p.Ala615Pro No assertion criteria pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures ⚠

Benign 8

  • c.1214+12C>T Multiple submitters pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
  • c.1214+20G>A Multiple submitters pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
  • c.1214+37C>T Multiple submitters pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
  • p.Phe699= Multiple submitters pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
  • p.Thr149= Multiple submitters
  • p.Tyr647= Multiple submitters pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
  • c.1214+23dup Single submitter pachygyria, microcephaly, developmental delay, and dysmorphic facies, with or without seizures
  • p.Asn760= Single submitter

Benign/Likely benign 3

Likely benign 56

Uncertain significance 125