Sugi Variant

Sugi Variant/TGDS

TGDS — 120 ClinVar variants

All ClinVar germline TGDS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →

4 Pathogenic · 3 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 2 Conflicting · 21 Benign · 1 Benign/Likely benign · 32 Likely benign · 51 Uncertain significance

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

⚑ Evidence disagreements 48

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 36

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

Predictors split 9

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

All TGDS variants

Pathogenic 4

Pathogenic/Likely pathogenic 3

Likely pathogenic 6

Conflicting classifications of pathogenicity 2

  • c.885-2A>C Single submitter Catel-Manzke syndrome
  • p.Lys91fs Single submitter Catel-Manzke syndrome

Benign 21

Benign/Likely benign 1

Likely benign 32

Uncertain significance 51