Sugi Variant

Sugi Variant/RS1

RS1 — 620 ClinVar variants

All ClinVar germline RS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 164 flagged for review →

161 Pathogenic · 31 Pathogenic/Likely pathogenic · 100 Likely pathogenic · 19 Conflicting · 20 Benign · 8 Benign/Likely benign · 147 Likely benign · 134 Uncertain significance

Full RS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 164

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 3

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 8

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

Predictors lean, ClinVar uncertain 62

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

Predictors split 91

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

All RS1 variants

Pathogenic 161

Pathogenic/Likely pathogenic 31

Likely pathogenic 100

Conflicting classifications of pathogenicity 19

Benign 20

Benign/Likely benign 8

Likely benign 147

Uncertain significance 134