TBCA — 12 ClinVar variants
All ClinVar germline TBCA variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 11 flagged for review →
1 Likely benign · 11 Uncertain significance
Full TBCA gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 11
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.
- TBCA p.Arg80Trp Uncertain significance Single submitter
- TBCA p.Arg98Cys Uncertain significance Single submitter
- TBCA p.Asn84Lys Uncertain significance Single submitter
- TBCA p.Gln33Glu Uncertain significance Single submitter
- TBCA p.Glu59Lys Uncertain significance Single submitter
- TBCA p.Leu88Ser Uncertain significance Single submitter
- TBCA p.Leu99Ser Uncertain significance Single submitter
- TBCA p.Tyr94Cys Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All TBCA variants
Likely benign 1
- p.Arg80Gln Single submitter
Uncertain significance 11
- p.Arg69His Single submitter ⚠
- p.Arg80Trp Single submitter ⚠
- p.Arg98Cys Single submitter ⚠
- p.Asn84Lys Single submitter ⚠
- p.Gln33Glu Single submitter ⚠
- p.Glu59Lys Single submitter ⚠
- p.Leu106Ser Single submitter ⚠
- p.Leu88Ser Single submitter ⚠
- p.Leu99Ser Single submitter ⚠
- p.Ser103Leu Single submitter ⚠
- p.Tyr94Cys Single submitter ⚠