Sugi Variant

Sugi Variant/ACTN1

ACTN1 — 580 ClinVar variants

All ClinVar germline ACTN1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 260 flagged for review →

3 Pathogenic · 4 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 22 Conflicting · 86 Benign · 8 Benign/Likely benign · 179 Likely benign · 264 Uncertain significance

Full ACTN1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 260

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 3

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

Predictors agree, ClinVar conflicts 13

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

Predictors lean, ClinVar uncertain 145

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

Predictors split 99

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

All ACTN1 variants

Pathogenic 3

  • p.Glu225Lys Multiple submitters Macrothrombocytopenia
  • p.Gln32Lys No assertion criteria platelet-type bleeding disorder 15
  • p.Trp128Cys No assertion criteria platelet-type bleeding disorder 15

Pathogenic/Likely pathogenic 4

  • p.Arg450Cys Multiple submitters platelet-type bleeding disorder 15
  • p.Arg46Gln Multiple submitters Macrothrombocytopenia
  • p.Arg46Trp Multiple submitters Inborn genetic diseases
  • p.Val105Ile Multiple submitters Macrothrombocytopenia

Likely pathogenic 14

Conflicting classifications of pathogenicity 22

Benign 86

Benign/Likely benign 8

Likely benign 179

Uncertain significance 264