Sugi Variant

Sugi Variant/SUMF1

SUMF1 — 669 ClinVar variants

All ClinVar germline SUMF1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 170 flagged for review →

42 Pathogenic · 28 Pathogenic/Likely pathogenic · 43 Likely pathogenic · 26 Conflicting · 34 Benign · 11 Benign/Likely benign · 287 Likely benign · 198 Uncertain significance

Full SUMF1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 170

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 13

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

Predictors lean, ClinVar uncertain 114

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 SUMF1 variants

Pathogenic 42

Pathogenic/Likely pathogenic 28

Likely pathogenic 43

Conflicting classifications of pathogenicity 26

Benign 34

Benign/Likely benign 11

Likely benign 287

Uncertain significance 198