Sugi Variant

Sugi Variant/MAST3

MAST3 — 284 ClinVar variants

All ClinVar germline MAST3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 186 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 1 Conflicting · 7 Benign · 1 Benign/Likely benign · 61 Likely benign · 207 Uncertain significance

Full MAST3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 186

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 1

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

Predictors lean, ClinVar uncertain 142

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

Predictors split 43

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

All MAST3 variants

Pathogenic 4

  • p.Gly544Ser Multiple submitters developmental and epileptic encephalopathy 108 ⚠
  • p.Arg435Pro No assertion criteria developmental and epileptic encephalopathy 108
  • p.Leu545Pro No assertion criteria developmental and epileptic encephalopathy 108
  • p.Val580Leu No assertion criteria developmental and epileptic encephalopathy 108

Pathogenic/Likely pathogenic 1

  • p.Gly539Ser Multiple submitters pervasive developmental disorder

Likely pathogenic 2

  • p.Asp1299Tyr Single submitter developmental and epileptic encephalopathy 108 ⚠
  • p.Asp519Gly Single submitter Inborn genetic diseases

Conflicting classifications of pathogenicity 1

Benign 7

Benign/Likely benign 1

  • p.Arg232Gln Multiple submitters Inborn genetic diseases

Likely benign 61

Uncertain significance 207