Sugi Variant

Sugi Variant/SPART

SPART — 405 ClinVar variants

All ClinVar germline SPART variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 182 flagged for review →

15 Pathogenic · 3 Pathogenic/Likely pathogenic · 11 Likely pathogenic · 16 Conflicting · 14 Benign · 2 Benign/Likely benign · 112 Likely benign · 232 Uncertain significance

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

⚑ Evidence disagreements 182

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 6

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

Predictors lean, ClinVar uncertain 135

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

Predictors split 41

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

All SPART variants

Pathogenic 15

Pathogenic/Likely pathogenic 3

Likely pathogenic 11

Conflicting classifications of pathogenicity 16

Benign 14

Benign/Likely benign 2

Likely benign 112

Uncertain significance 232