Sugi Variant

Sugi Variant/TMEM151A

TMEM151A — 90 ClinVar variants

All ClinVar germline TMEM151A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 74 flagged for review →

9 Pathogenic · 2 Likely pathogenic · 1 Conflicting · 6 Likely benign · 72 Uncertain significance

Full TMEM151A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 74

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 61

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

Predictors split 11

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

All TMEM151A variants

Pathogenic 9

  • p.Cys125Ter No assertion criteria episodic kinesigenic dyskinesia 3
  • p.Glu362Gly No assertion criteria episodic kinesigenic dyskinesia 3
  • p.Gly56Arg No assertion criteria episodic kinesigenic dyskinesia 3 ⚠
  • p.Leu253Pro No assertion criteria episodic kinesigenic dyskinesia 3
  • p.Leu300fs No assertion criteria episodic kinesigenic dyskinesia 3
  • p.Pro426fs No assertion criteria episodic kinesigenic dyskinesia 3
  • p.Trp348Ter No assertion criteria episodic kinesigenic dyskinesia 3
  • p.Val203fs No assertion criteria episodic kinesigenic dyskinesia 3
  • p.Val264Ala No assertion criteria episodic kinesigenic dyskinesia 3

Likely pathogenic 2

  • p.Pro276Leu Single submitter episodic kinesigenic dyskinesia 3 ⚠
  • p.Pro102fs No assertion criteria TMEM151A-related disorder

Conflicting classifications of pathogenicity 1

Likely benign 6

Uncertain significance 72