ACTN3 — 231 ClinVar variants

All ClinVar germline ACTN3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 200 flagged for review →

17 Benign · 19 Likely benign · 195 Uncertain significance

Full ACTN3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 200

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 lean, ClinVar uncertain 100

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

Predictors split 100

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

All ACTN3 variants

Benign 17

Likely benign 19

Uncertain significance 195