Sugi Variant

Sugi Variant/SC5D

SC5D — 226 ClinVar variants

All ClinVar germline SC5D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 52 flagged for review →

3 Pathogenic · 2 Likely pathogenic · 7 Conflicting · 23 Benign · 3 Benign/Likely benign · 45 Likely benign · 143 Uncertain significance

Full SC5D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 52

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 2

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

Predictors lean, ClinVar uncertain 38

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

Predictors split 12

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

All SC5D variants

Pathogenic 3

Likely pathogenic 2

Conflicting classifications of pathogenicity 7

Benign 23

Benign/Likely benign 3

Likely benign 45

Uncertain significance 143