Sugi Variant

Sugi Variant/MAP3K1

MAP3K1 — 298 ClinVar variants

All ClinVar germline MAP3K1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 173 flagged for review →

10 Pathogenic · 1 Pathogenic/Likely pathogenic · 7 Likely pathogenic · 12 Conflicting · 46 Benign · 7 Benign/Likely benign · 60 Likely benign · 155 Uncertain significance

Full MAP3K1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 173

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 2

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

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 101

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

Predictors split 63

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

All MAP3K1 variants

Pathogenic 10

Pathogenic/Likely pathogenic 1

Likely pathogenic 7

Conflicting classifications of pathogenicity 12

Benign 46

Benign/Likely benign 7

  • c.2179+16T>G Multiple submitters 46,XY sex reversal 6
  • c.834+9A>G Multiple submitters 46,XY sex reversal 6
  • c.835-11dup Multiple submitters 46,XY sex reversal 6
  • p.Gln237Arg Multiple submitters 46,XY sex reversal 6
  • p.Pro962= Multiple submitters Inborn genetic diseases
  • p.Ser1358= Multiple submitters 46,XY sex reversal 6
  • p.Val889Leu Multiple submitters 46,XY sex reversal 6

Likely benign 60

Uncertain significance 155