ACTR1A — 18 ClinVar variants
All ClinVar germline ACTR1A variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Likely benign · 17 Uncertain significance
Full ACTR1A gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 12
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACTR1A p.Arg192Cys Uncertain significance Single submitter
- ACTR1A p.Asn133Tyr Uncertain significance Single submitter
- ACTR1A p.Ile268Thr Uncertain significance Single submitter
- ACTR1A p.Ile371Met Uncertain significance Single submitter
- ACTR1A p.Leu267Ser Uncertain significance Single submitter
- ACTR1A p.Met181Val Uncertain significance Single submitter
- ACTR1A p.Tyr197Cys Uncertain significance Single submitter
- ACTR1A p.Tyr94Cys Uncertain significance Single submitter
- ACTR1A p.Val127Gly Uncertain significance Single submitter
- ACTR1A p.Val190Ile Uncertain significance Single submitter
- ACTR1A p.Val45Ile Uncertain significance Single submitter
- ACTR1A p.Val80Ile Uncertain significance Single submitter
Predictors split 5
The independent predictors disagree with each other — read with care.
All ACTR1A variants
Likely benign 1
- p.Tyr38= Single submitter
Uncertain significance 17
- p.Arg192Cys Single submitter ⚠
- p.Asn133Tyr Single submitter ⚠
- p.Ile268Thr Single submitter ⚠
- p.Ile330Leu Single submitter ⚠
- p.Ile371Met Single submitter ⚠
- p.Leu196His Single submitter ⚠
- p.Leu267Ser Single submitter ⚠
- p.Lys308Asn Single submitter ⚠
- p.Met181Val Single submitter ⚠
- p.Ser70Leu Single submitter ⚠
- p.Thr233Met Single submitter ⚠
- p.Tyr197Cys Single submitter ⚠
- p.Tyr94Cys Single submitter ⚠
- p.Val127Gly Single submitter ⚠
- p.Val190Ile Single submitter ⚠
- p.Val45Ile Single submitter ⚠
- p.Val80Ile Single submitter ⚠