ACTR3 — 18 ClinVar variants

All ClinVar germline ACTR3 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 16 flagged for review →

1 Benign · 1 Likely benign · 16 Uncertain significance

Full ACTR3 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 16

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 8

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

Predictors split 8

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

All ACTR3 variants

Benign 1

c.858+12dup Single submitter

Likely benign 1

p.Gly15= Single submitter

Uncertain significance 16

p.Arg79Cys Single submitter ⚠
p.Asn260Ser Single submitter ⚠
p.Asn411Ser Single submitter ⚠
p.Gly3Glu Single submitter ⚠
p.His80Arg Single submitter ⚠
p.Ile253Ser Single submitter ⚠
p.Ile67Val Single submitter ⚠
p.Leu339Val Single submitter ⚠
p.Lys228Met Single submitter ⚠
p.Met417Thr Single submitter ⚠
p.Pro290Ala Single submitter ⚠
p.Thr247Ala Single submitter ⚠
p.Val146Ile Single submitter ⚠
p.Val167Ile Single submitter ⚠
p.Val271Ile Single submitter ⚠
p.Val303Ala Single submitter ⚠