ACTRT1 — 66 ClinVar variants
All ClinVar germline ACTRT1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
1 Conflicting · 3 Benign · 7 Likely benign · 55 Uncertain significance
Full ACTRT1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 27
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- ACTRT1 p.Ala361Glu Uncertain significance Single submitter
- ACTRT1 p.Arg231Leu Uncertain significance Single submitter
- ACTRT1 p.Arg231Ser Uncertain significance Single submitter
- ACTRT1 p.Arg313Thr Uncertain significance Single submitter
- ACTRT1 p.Arg76His Uncertain significance Single submitter
- ACTRT1 p.Arg95Gln Uncertain significance Single submitter
- ACTRT1 p.Asn45Ser Uncertain significance Single submitter
- ACTRT1 p.Cys21Tyr Uncertain significance Single submitter
- ACTRT1 p.Glu94Gln Uncertain significance Single submitter
- ACTRT1 p.Glu96Asp Uncertain significance Single submitter
- ACTRT1 p.Gly171Asp Uncertain significance Single submitter
- ACTRT1 p.His247Arg Uncertain significance Single submitter
- ACTRT1 p.His5Tyr Uncertain significance Single submitter
- ACTRT1 p.His71Arg Uncertain significance Single submitter
- ACTRT1 p.His71Gln Uncertain significance Single submitter
- ACTRT1 p.Ile118Asn Uncertain significance Single submitter
- ACTRT1 p.Ile118Ser Uncertain significance Single submitter
- ACTRT1 p.Ile74Val Uncertain significance Single submitter
- ACTRT1 p.Leu275Phe Uncertain significance Single submitter
- ACTRT1 p.Leu68Val Uncertain significance Single submitter
- ACTRT1 p.Leu7Phe Uncertain significance Single submitter
- ACTRT1 p.Lys90Gln Uncertain significance Single submitter
- ACTRT1 p.Pro204Leu Uncertain significance Single submitter
- ACTRT1 p.Pro327Ser Uncertain significance Single submitter
- ACTRT1 p.Thr326Ser Uncertain significance Single submitter
- ACTRT1 p.Thr80Ala Uncertain significance Single submitter
- ACTRT1 p.Val99Ile Uncertain significance Single submitter
Predictors split 29
The independent predictors disagree with each other — read with care.
- ACTRT1 p.Ser345Thr Benign Multiple submitters
- ACTRT1 p.Ala141Val Uncertain significance Single submitter
- ACTRT1 p.Ala344Val Uncertain significance Single submitter
- ACTRT1 p.Arg194Leu Uncertain significance Single submitter
- ACTRT1 p.Arg194Trp Uncertain significance Single submitter
- ACTRT1 p.Arg32Leu Uncertain significance Single submitter
- ACTRT1 p.Arg76Cys Uncertain significance Single submitter
- ACTRT1 p.Gln355Leu Uncertain significance Single submitter
- ACTRT1 p.Glu365Asp Uncertain significance Single submitter
- ACTRT1 p.Gly246Glu Uncertain significance Single submitter
- ACTRT1 p.Gly274Glu Uncertain significance Single submitter
- ACTRT1 p.Ile188Phe Uncertain significance Single submitter
- ACTRT1 p.Leu181His Uncertain significance Single submitter
- ACTRT1 p.Leu196Val Uncertain significance Single submitter
- ACTRT1 p.Met356Lys Uncertain significance Single submitter
- ACTRT1 p.Met85Ile Uncertain significance Single submitter
- ACTRT1 p.Phe251Ser Uncertain significance Single submitter
- ACTRT1 p.Phe56Leu Uncertain significance Single submitter
- ACTRT1 p.Pro101Arg Uncertain significance Single submitter
- ACTRT1 p.Pro244Leu Uncertain significance Single submitter
- ACTRT1 p.Ser18Leu Uncertain significance Single submitter
- ACTRT1 p.Ser272Gly Uncertain significance Single submitter
- ACTRT1 p.Ser339Tyr Uncertain significance Single submitter
- ACTRT1 p.Thr129Ala Uncertain significance Single submitter
- ACTRT1 p.Tyr136Phe Uncertain significance Single submitter
- ACTRT1 p.Tyr136Ser Uncertain significance Single submitter
- ACTRT1 p.Tyr241His Uncertain significance Single submitter
-
ACTRT1 p.Val99Ala
Uncertain significance
Single submitter
ACTRT1-related disorder
- ACTRT1 p.Val9Ile Uncertain significance Single submitter
All ACTRT1 variants
Conflicting classifications of pathogenicity 1
- p.Met183fs Single submitter Male infertility with azoospermia or oligozoospermia due to single gene mutation
Benign 3
- p.Arg313Ser Multiple submitters
- p.Ser345Thr Multiple submitters ⚠
- p.Asn292Ser Single submitter
Likely benign 7
- p.Arg95Trp Single submitter
- p.Gly235Glu Single submitter
- p.Gly40Arg Single submitter
- p.Ser131Asn Single submitter
- p.Val318= Single submitter
- p.Val9= Single submitter
- p.Ile13Val No assertion criteria ACTRT1-related disorder
Uncertain significance 55
- p.Ala141Val Single submitter ⚠
- p.Ala344Val Single submitter ⚠
- p.Ala361Glu Single submitter ⚠
- p.Arg194Leu Single submitter ⚠
- p.Arg194Trp Single submitter ⚠
- p.Arg231Leu Single submitter ⚠
- p.Arg231Ser Single submitter ⚠
- p.Arg313Thr Single submitter ⚠
- p.Arg32Leu Single submitter ⚠
- p.Arg76Cys Single submitter ⚠
- p.Arg76His Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Asn45Ser Single submitter ⚠
- p.Cys21Tyr Single submitter ⚠
- p.Gln355Leu Single submitter ⚠
- p.Glu365Asp Single submitter ⚠
- p.Glu94Gln Single submitter ⚠
- p.Glu96Asp Single submitter ⚠
- p.Gly171Asp Single submitter ⚠
- p.Gly246Glu Single submitter ⚠
- p.Gly274Glu Single submitter ⚠
- p.His247Arg Single submitter ⚠
- p.His5Tyr Single submitter ⚠
- p.His71Arg Single submitter ⚠
- p.His71Gln Single submitter ⚠
- p.Ile118Asn Single submitter ⚠
- p.Ile118Ser Single submitter ⚠
- p.Ile188Phe Single submitter ⚠
- p.Ile74Val Single submitter ⚠
- p.Leu181His Single submitter ⚠
- p.Leu196Val Single submitter ⚠
- p.Leu275Phe Single submitter ⚠
- p.Leu68Val Single submitter ⚠
- p.Leu7Phe Single submitter ⚠
- p.Lys90Gln Single submitter ⚠
- p.Met356Lys Single submitter ⚠
- p.Met85Ile Single submitter ⚠
- p.Phe251Ser Single submitter ⚠
- p.Phe56Leu Single submitter ⚠
- p.Pro101Arg Single submitter ⚠
- p.Pro204Leu Single submitter ⚠
- p.Pro244Leu Single submitter ⚠
- p.Pro327Ser Single submitter ⚠
- p.Ser18Leu Single submitter ⚠
- p.Ser272Gly Single submitter ⚠
- p.Ser339Tyr Single submitter ⚠
- p.Thr129Ala Single submitter ⚠
- p.Thr326Ser Single submitter ⚠
- p.Thr80Ala Single submitter ⚠
- p.Tyr136Phe Single submitter ⚠
- p.Tyr136Ser Single submitter ⚠
- p.Tyr241His Single submitter ⚠
- p.Val99Ala Single submitter ACTRT1-related disorder ⚠
- p.Val99Ile Single submitter ⚠
- p.Val9Ile Single submitter ⚠