Sugi Variant

Sugi Variant/ASS1

ASS1 — 885 ClinVar variants

All ClinVar germline ASS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 197 flagged for review →

67 Pathogenic · 51 Pathogenic/Likely pathogenic · 102 Likely pathogenic · 48 Conflicting · 45 Benign · 10 Benign/Likely benign · 349 Likely benign · 213 Uncertain significance

Full ASS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 197

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 4

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

Predictors agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 85

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

Predictors split 96

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

All ASS1 variants

Pathogenic 67

Pathogenic/Likely pathogenic 51

Likely pathogenic 102

Conflicting classifications of pathogenicity 48

Benign 45

Benign/Likely benign 10

Likely benign 349

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

Uncertain significance 213