Sugi Variant

Sugi Variant/SOS2

SOS2 — 1994 ClinVar variants

All ClinVar germline SOS2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 879 flagged for review →

4 Pathogenic · 2 Pathogenic/Likely pathogenic · 6 Likely pathogenic · 120 Conflicting · 117 Benign · 68 Benign/Likely benign · 728 Likely benign · 949 Uncertain significance

Full SOS2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 879

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 89

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

Predicted LoF vs a conflicting call 1

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 586

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 586

Predictors split 203

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 203

All SOS2 variants

Pathogenic 4

Pathogenic/Likely pathogenic 2

Likely pathogenic 6

Conflicting classifications of pathogenicity 120

Benign 117

Benign/Likely benign 68

Likely benign 728

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

Uncertain significance 949

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