Sugi Variant

Sugi Variant/GNAL

GNAL — 285 ClinVar variants

All ClinVar germline GNAL variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 63 flagged for review →

14 Pathogenic · 11 Likely pathogenic · 4 Conflicting · 65 Benign · 5 Benign/Likely benign · 95 Likely benign · 91 Uncertain significance

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

⚑ Evidence disagreements 63

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 1

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

Predictors lean, ClinVar uncertain 45

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

Predictors split 16

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

All GNAL variants

Pathogenic 14

Likely pathogenic 11

Conflicting classifications of pathogenicity 4

Benign 65

Benign/Likely benign 5

  • p.Arg22= Multiple submitters dystonic disorder
  • p.Arg44= Multiple submitters dystonic disorder
  • p.Glu84= Multiple submitters dystonic disorder
  • p.Thr10= Multiple submitters dystonic disorder
  • p.Thr348= Multiple submitters dystonic disorder

Likely benign 95

Uncertain significance 91