Sugi Variant

Sugi Variant/TGM6

TGM6 — 570 ClinVar variants

All ClinVar germline TGM6 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 255 flagged for review →

3 Pathogenic · 11 Likely pathogenic · 51 Conflicting · 63 Benign · 49 Benign/Likely benign · 115 Likely benign · 278 Uncertain significance

Full TGM6 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 255

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 29

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

Predictors lean, ClinVar uncertain 179

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 179

Predictors split 46

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

All TGM6 variants

Pathogenic 3

  • c.1336+1G>T Single submitter spinocerebellar ataxia type 35
  • p.Glu574del No assertion criteria spinocerebellar ataxia type 35
  • p.Gly477fs No assertion criteria spinocerebellar ataxia type 35

Likely pathogenic 11

Conflicting classifications of pathogenicity 51

Benign 63

Benign/Likely benign 49

Likely benign 115

Uncertain significance 278