TOP1 — 44 ClinVar variants
All ClinVar germline TOP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
1 Pathogenic · 6 Benign · 4 Likely benign · 33 Uncertain significance
Full TOP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 33
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 25
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- TOP1 p.Arg140Gln Uncertain significance Single submitter
- TOP1 p.Arg693Lys Uncertain significance Single submitter
- TOP1 p.Arg95Gln Uncertain significance Single submitter
- TOP1 p.Asn178His Uncertain significance Single submitter
- TOP1 p.Asn190Asp Uncertain significance Single submitter
- TOP1 p.Asn292Ile Uncertain significance Single submitter
- TOP1 p.Asn408Ser Uncertain significance Single submitter
- TOP1 p.Asn8Ser Uncertain significance Single submitter
- TOP1 p.Asp170Gly Uncertain significance Single submitter
- TOP1 p.Glu289Val Uncertain significance Single submitter
- TOP1 p.Glu695Gln Uncertain significance Single submitter
- TOP1 p.His515Tyr Uncertain significance Single submitter
- TOP1 p.Ile628Val Uncertain significance Single submitter
- TOP1 p.Ile714Val Uncertain significance Single submitter
- TOP1 p.Leu297Pro Uncertain significance Single submitter
- TOP1 p.Lys161Arg Uncertain significance Single submitter
- TOP1 p.Lys90Arg Uncertain significance Single submitter
- TOP1 p.Met675Val Uncertain significance Single submitter
- TOP1 p.Phe260Tyr Uncertain significance Single submitter
- TOP1 p.Ser306Thr Uncertain significance Single submitter
- TOP1 p.Ser394Phe Uncertain significance Single submitter
- TOP1 p.Ser667Thr Uncertain significance Single submitter
- TOP1 p.Tyr308Phe Uncertain significance Single submitter
- TOP1 p.Tyr338Cys Uncertain significance Single submitter
- TOP1 p.Val674Ile Uncertain significance Single submitter
Predictors split 8
The independent predictors disagree with each other — read with care.
- TOP1 p.Arg34Trp Uncertain significance Single submitter
-
TOP1 p.Asp760Gly
Uncertain significance
Single submitter
TOP1-related disorder
- TOP1 p.Gln657Arg Uncertain significance Single submitter
- TOP1 p.Glu517Gly Uncertain significance Single submitter
- TOP1 p.His81Tyr Benign Single submitter
- TOP1 p.Lys245Asn Uncertain significance Single submitter
- TOP1 p.Lys673Asn Uncertain significance Single submitter
- TOP1 p.Met319Ile Uncertain significance Single submitter
All TOP1 variants
Pathogenic 1
- p.Glu418Lys No assertion criteria DNA topoisomerase I, camptothecin-resistant
Benign 6
Likely benign 4
Uncertain significance 33
- p.Arg140Gln Single submitter ⚠
- p.Arg34Trp Single submitter ⚠
- p.Arg449Trp Single submitter
- p.Arg693Lys Single submitter ⚠
- p.Arg95Gln Single submitter ⚠
- p.Asn178His Single submitter ⚠
- p.Asn190Asp Single submitter ⚠
- p.Asn292Ile Single submitter ⚠
- p.Asn408Ser Single submitter ⚠
- p.Asn8Ser Single submitter ⚠
- p.Asp170Gly Single submitter ⚠
- p.Asp760Gly Single submitter TOP1-related disorder ⚠
- p.Gln657Arg Single submitter ⚠
- p.Glu289Val Single submitter ⚠
- p.Glu517Gly Single submitter ⚠
- p.Glu695Gln Single submitter ⚠
- p.His515Tyr Single submitter ⚠
- p.Ile628Val Single submitter ⚠
- p.Ile714Val Single submitter ⚠
- p.Leu297Pro Single submitter ⚠
- p.Lys161Arg Single submitter ⚠
- p.Lys245Asn Single submitter ⚠
- p.Lys673Asn Single submitter ⚠
- p.Lys90Arg Single submitter ⚠
- p.Met319Ile Single submitter ⚠
- p.Met675Val Single submitter ⚠
- p.Phe260Tyr Single submitter ⚠
- p.Ser306Thr Single submitter ⚠
- p.Ser394Phe Single submitter ⚠
- p.Ser667Thr Single submitter ⚠
- p.Tyr308Phe Single submitter ⚠
- p.Tyr338Cys Single submitter ⚠
- p.Val674Ile Single submitter ⚠