PBDC1 — 18 ClinVar variants
All ClinVar germline PBDC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 15 flagged for review →
3 Likely benign · 15 Uncertain significance
Full PBDC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 15
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.
- PBDC1 p.Asp212Glu Uncertain significance Single submitter
- PBDC1 p.Asp85Glu Uncertain significance Single submitter
- PBDC1 p.Glu192Asp Uncertain significance Single submitter
- PBDC1 p.Glu224Gln Uncertain significance Single submitter
- PBDC1 p.Glu80Asp Uncertain significance Single submitter
- PBDC1 p.Gly182Glu Uncertain significance Single submitter
- PBDC1 p.Ile160Val Uncertain significance Single submitter
- PBDC1 p.Lys193Arg Uncertain significance Single submitter
- PBDC1 p.Phe136Tyr Uncertain significance Single submitter
- PBDC1 p.Pro33Leu Uncertain significance Single submitter
- PBDC1 p.Thr187Asn Uncertain significance Single submitter
- PBDC1 p.Tyr154Cys Uncertain significance Single submitter
Predictors split 3
The independent predictors disagree with each other — read with care.
All PBDC1 variants
Likely benign 3
- p.Asn155= Single submitter
- p.Leu22Arg Single submitter ⚠
- p.Ser181Asn Single submitter
Uncertain significance 15
- p.Arg151Gln Single submitter ⚠
- p.Asp212Glu Single submitter ⚠
- p.Asp85Glu Single submitter ⚠
- p.Glu131Gly Single submitter
- p.Glu192Asp Single submitter ⚠
- p.Glu224Gln Single submitter ⚠
- p.Glu80Asp Single submitter ⚠
- p.Gly182Glu Single submitter ⚠
- p.Ile160Val Single submitter ⚠
- p.Leu22Pro Single submitter ⚠
- p.Lys193Arg Single submitter ⚠
- p.Phe136Tyr Single submitter ⚠
- p.Pro33Leu Single submitter ⚠
- p.Thr187Asn Single submitter ⚠
- p.Tyr154Cys Single submitter ⚠