Sugi Variant

Sugi Variant/SGCE

SGCE — 742 ClinVar variants

All ClinVar germline SGCE variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 300 flagged for review →

109 Pathogenic · 16 Pathogenic/Likely pathogenic · 30 Likely pathogenic · 23 Conflicting · 25 Benign · 11 Benign/Likely benign · 180 Likely benign · 348 Uncertain significance

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

⚑ Evidence disagreements 300

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 6

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

Predicted LoF vs a conflicting call 2

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 136

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

Predictors split 155

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 155

All SGCE variants

Pathogenic 109

Pathogenic/Likely pathogenic 16

Likely pathogenic 30

Conflicting classifications of pathogenicity 23

Benign 25

Benign/Likely benign 11

Likely benign 180

Uncertain significance 348

Showing the top 300 by review status; the full set is in the sitemap.