Sugi Variant

Sugi Variant/SOS1

SOS1 — 2105 ClinVar variants

All ClinVar germline SOS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 998 flagged for review →

19 Pathogenic · 9 Pathogenic/Likely pathogenic · 36 Likely pathogenic · 171 Conflicting · 100 Benign · 44 Benign/Likely benign · 657 Likely benign · 1069 Uncertain significance

Full SOS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 998

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 12

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

Predictors agree, ClinVar conflicts 114

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 621

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 621

Predictors split 249

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 249

All SOS1 variants

Pathogenic 19

Pathogenic/Likely pathogenic 9

Likely pathogenic 36

Conflicting classifications of pathogenicity 171

Benign 100

Benign/Likely benign 44

Likely benign 657

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

Uncertain significance 1069

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