Sugi Variant

Sugi Variant/SGPL1

SGPL1 — 356 ClinVar variants

All ClinVar germline SGPL1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 128 flagged for review →

20 Pathogenic · 1 Pathogenic/Likely pathogenic · 9 Likely pathogenic · 4 Conflicting · 25 Benign · 4 Benign/Likely benign · 158 Likely benign · 135 Uncertain significance

Full SGPL1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 128

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 3

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

Predictors lean, ClinVar uncertain 98

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

Predictors split 26

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

All SGPL1 variants

Pathogenic 20

Pathogenic/Likely pathogenic 1

  • p.Ser346Ile No assertion criteria nephrotic syndrome 14

Likely pathogenic 9

Conflicting classifications of pathogenicity 4

Benign 25

Benign/Likely benign 4

Likely benign 158

Uncertain significance 135