Sugi Variant

Sugi Variant/MTPAP

MTPAP — 381 ClinVar variants

All ClinVar germline MTPAP variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 160 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 12 Conflicting · 34 Benign · 13 Benign/Likely benign · 144 Likely benign · 175 Uncertain significance

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

⚑ Evidence disagreements 160

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 9

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

Predictors lean, ClinVar uncertain 130

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

Predictors split 20

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

All MTPAP variants

Pathogenic 1

Likely pathogenic 2

Conflicting classifications of pathogenicity 12

Benign 34

Benign/Likely benign 13

Likely benign 144

Uncertain significance 175