ACVR1C — 70 ClinVar variants
All ClinVar germline ACVR1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 36 flagged for review →
31 Benign · 3 Likely benign · 36 Uncertain significance
Full ACVR1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 36
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 23
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACVR1C p.Ala135Val Uncertain significance Single submitter
- ACVR1C p.Ala176Thr Uncertain significance Single submitter
- ACVR1C p.Arg139Gln Uncertain significance Single submitter
- ACVR1C p.Arg189Lys Uncertain significance Single submitter
- ACVR1C p.Arg245Gln Uncertain significance Single submitter
- ACVR1C p.Arg3Leu Uncertain significance Single submitter
- ACVR1C p.Asn105Tyr Uncertain significance Single submitter
- ACVR1C p.Asn93Lys Uncertain significance Single submitter
- ACVR1C p.Asp259Glu Uncertain significance Single submitter
- ACVR1C p.Cys123Ser Uncertain significance Single submitter
- ACVR1C p.Cys215Arg Uncertain significance Single submitter
- ACVR1C p.Cys491Ser Uncertain significance Single submitter
- ACVR1C p.Gln188Leu Uncertain significance Single submitter
- ACVR1C p.Glu85Lys Uncertain significance Single submitter
- ACVR1C p.Gly315Asp Uncertain significance Single submitter
- ACVR1C p.His211Arg Uncertain significance Single submitter
- ACVR1C p.Ile310Met Uncertain significance Single submitter
- ACVR1C p.Ile355Val Uncertain significance Single submitter
- ACVR1C p.Leu155Val Uncertain significance Single submitter
- ACVR1C p.Lys332Glu Uncertain significance Single submitter
- ACVR1C p.Met461Ile Uncertain significance Single submitter
- ACVR1C p.Ser298Leu Uncertain significance Single submitter
- ACVR1C p.Val411Ala Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- ACVR1C p.Ala296Val Uncertain significance Single submitter
- ACVR1C p.Arg455Gly Uncertain significance Single submitter
- ACVR1C p.Glu153Lys Uncertain significance Single submitter
- ACVR1C p.Gly164Arg Uncertain significance Single submitter
- ACVR1C p.Gly408Arg Uncertain significance Single submitter
- ACVR1C p.Ile171Val Uncertain significance Single submitter
- ACVR1C p.Ile249Val Uncertain significance Single submitter
- ACVR1C p.Ile293Ser Uncertain significance Single submitter
- ACVR1C p.Ile324Val Uncertain significance Single submitter
- ACVR1C p.Leu155Phe Uncertain significance Single submitter
- ACVR1C p.Leu9Val Uncertain significance Single submitter
- ACVR1C p.Thr474Ser Uncertain significance Single submitter
- ACVR1C p.Val59Ala Uncertain significance Single submitter
All ACVR1C variants
Benign 31
- c.1226-50T>C Multiple submitters
- c.1356+6G>C Multiple submitters
- c.305-34T>C Multiple submitters
- c.544+63A>G Multiple submitters
- c.73+9C>A Multiple submitters
- c.776-13A>G Multiple submitters
- c.943+49G>A Multiple submitters
- p.Asn150His Multiple submitters
- p.Gln265= Multiple submitters
- p.Ile200= Multiple submitters
- p.Ile482Val Multiple submitters
- c.1100+180C>G Single submitter
- c.1356+166A>G Single submitter
- c.1356+272A>G Single submitter
- c.1357-211C>T Single submitter
- c.1357-71G>A Single submitter
- c.775+309dup Single submitter
- c.775+328_775+332del Single submitter
- c.775+332del Single submitter
- c.943+151G>T Single submitter
- c.943+221dup Single submitter
- c.943+241_943+242del Single submitter
- c.944-136A>T Single submitter
- c.944-140C>A Single submitter
- c.944-203C>T Single submitter
- p.Phe38= Single submitter
- p.Tyr281= Single submitter
- c.943+4T>C No assertion criteria ACVR1C-related disorder
- p.Ala340= No assertion criteria ACVR1C-related disorder
- p.Asn150= No assertion criteria ACVR1C-related disorder
- p.Val487Ile No assertion criteria ACVR1C-related disorder
Likely benign 3
- p.Ser450= Single submitter
- p.Ile195Thr No assertion criteria ACVR1C-related disorder
- p.Ser7= No assertion criteria ACVR1C-related disorder
Uncertain significance 36
- p.Ala135Val Single submitter ⚠
- p.Ala176Thr Single submitter ⚠
- p.Ala296Val Single submitter ⚠
- p.Arg139Gln Single submitter ⚠
- p.Arg189Lys Single submitter ⚠
- p.Arg245Gln Single submitter ⚠
- p.Arg3Leu Single submitter ⚠
- p.Arg455Gly Single submitter ⚠
- p.Asn105Tyr Single submitter ⚠
- p.Asn93Lys Single submitter ⚠
- p.Asp259Glu Single submitter ⚠
- p.Cys123Ser Single submitter ⚠
- p.Cys215Arg Single submitter ⚠
- p.Cys491Ser Single submitter ⚠
- p.Gln188Leu Single submitter ⚠
- p.Glu153Lys Single submitter ⚠
- p.Glu85Lys Single submitter ⚠
- p.Gly164Arg Single submitter ⚠
- p.Gly315Asp Single submitter ⚠
- p.Gly408Arg Single submitter ⚠
- p.His211Arg Single submitter ⚠
- p.Ile171Val Single submitter ⚠
- p.Ile249Val Single submitter ⚠
- p.Ile293Ser Single submitter ⚠
- p.Ile310Met Single submitter ⚠
- p.Ile324Val Single submitter ⚠
- p.Ile355Val Single submitter ⚠
- p.Leu155Phe Single submitter ⚠
- p.Leu155Val Single submitter ⚠
- p.Leu9Val Single submitter ⚠
- p.Lys332Glu Single submitter ⚠
- p.Met461Ile Single submitter ⚠
- p.Ser298Leu Single submitter ⚠
- p.Thr474Ser Single submitter ⚠
- p.Val411Ala Single submitter ⚠
- p.Val59Ala Single submitter ⚠