Sugi Variant

Sugi Variant/GMNN

GMNN — 121 ClinVar variants

All ClinVar germline GMNN variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →

2 Pathogenic · 1 Likely pathogenic · 5 Conflicting · 18 Benign · 2 Benign/Likely benign · 37 Likely benign · 56 Uncertain significance

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

⚑ Evidence disagreements 46

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 1

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

Predictors agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 37

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

Predictors split 3

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

All GMNN variants

Pathogenic 2

  • p.Ile12fs Single submitter Meier-Gorlin syndrome
  • p.Lys6Ter Single submitter Meier-Gorlin syndrome

Likely pathogenic 1

Conflicting classifications of pathogenicity 5

Benign 18

Benign/Likely benign 2

Likely benign 37

Uncertain significance 56