Sugi Variant

Sugi Variant/GATM

GATM — 647 ClinVar variants

All ClinVar germline GATM variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 253 flagged for review →

17 Pathogenic · 1 Pathogenic/Likely pathogenic · 21 Likely pathogenic · 6 Conflicting · 36 Benign · 6 Benign/Likely benign · 262 Likely benign · 298 Uncertain significance

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

⚑ Evidence disagreements 253

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 2

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

Predictors agree, ClinVar conflicts 3

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

Predictors lean, ClinVar uncertain 183

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 183

Predictors split 65

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

All GATM variants

Pathogenic 17

Pathogenic/Likely pathogenic 1

Likely pathogenic 21

Conflicting classifications of pathogenicity 6

Benign 36

Benign/Likely benign 6

Likely benign 262

Uncertain significance 298