PDK1 — 47 ClinVar variants
All ClinVar germline PDK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 46 flagged for review →
1 Conflicting · 1 Likely benign · 45 Uncertain significance
Full PDK1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 46
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 agree, ClinVar conflicts 1
ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.
Predictors lean, ClinVar uncertain 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDK1 p.Ala407Ser Uncertain significance Single submitter
- PDK1 p.Ala407Thr Uncertain significance Single submitter
- PDK1 p.Arg319Gln Uncertain significance Single submitter
- PDK1 p.Arg343Gly Uncertain significance Single submitter
- PDK1 p.Arg86Thr Uncertain significance Single submitter
- PDK1 p.Gln111His Uncertain significance Single submitter
- PDK1 p.Glu251Gln Uncertain significance Single submitter
- PDK1 p.Glu416Asp Uncertain significance Single submitter
- PDK1 p.Gly206Ser Uncertain significance Single submitter
- PDK1 p.Gly308Asp Uncertain significance Single submitter
- PDK1 p.Gly322Arg Uncertain significance Single submitter
- PDK1 p.Gly356Cys Uncertain significance Single submitter
- PDK1 p.Gly380Cys Uncertain significance Single submitter
- PDK1 p.His415Arg Uncertain significance Single submitter
- PDK1 p.Ile135Leu Uncertain significance Single submitter
- PDK1 p.Ile189Thr Uncertain significance Single submitter
- PDK1 p.Ile219Arg Uncertain significance Single submitter
- PDK1 p.Ile245Met Uncertain significance Single submitter
- PDK1 p.Leu242Met Uncertain significance Single submitter
- PDK1 p.Lys230Glu Uncertain significance Single submitter
- PDK1 p.Lys405Arg Uncertain significance Single submitter
- PDK1 p.Met156Thr Uncertain significance Single submitter
- PDK1 p.Met285Thr Uncertain significance Single submitter
- PDK1 p.Phe124Cys Uncertain significance Single submitter
- PDK1 p.Pro351Arg Uncertain significance Single submitter
- PDK1 p.Ser187Thr Uncertain significance Single submitter
- PDK1 p.Thr141Pro Uncertain significance Single submitter
- PDK1 p.Val297Phe Uncertain significance Single submitter
- PDK1 p.Tyr136His Uncertain significance No assertion criteria
Predictors split 16
The independent predictors disagree with each other — read with care.
- PDK1 p.Ala134Val Uncertain significance Single submitter
- PDK1 p.Arg144Gln Uncertain significance Single submitter
- PDK1 p.Arg238Cys Uncertain significance Single submitter
- PDK1 p.Asn196Ser Uncertain significance Single submitter
- PDK1 p.Asp131Val Uncertain significance Single submitter
- PDK1 p.Glu249Lys Uncertain significance Single submitter
- PDK1 p.Ile161Thr Uncertain significance Single submitter
- PDK1 p.Lys133Asn Uncertain significance Single submitter
- PDK1 p.Lys214Ile Uncertain significance Single submitter
- PDK1 p.Lys73Thr Uncertain significance Single submitter
- PDK1 p.Met335Thr Uncertain significance Single submitter
- PDK1 p.Pro171Arg Uncertain significance Single submitter
- PDK1 p.Pro300Ala Uncertain significance Single submitter
- PDK1 p.Ser424Asn Uncertain significance Single submitter
- PDK1 p.Thr306Met Uncertain significance Single submitter
- PDK1 p.Tyr274Cys Uncertain significance Single submitter
All PDK1 variants
Conflicting classifications of pathogenicity 1
- p.Asp137Glu Single submitter ⚠
Likely benign 1
- p.Val142= Single submitter
Uncertain significance 45
- p.Ala134Val Single submitter ⚠
- p.Ala407Ser Single submitter ⚠
- p.Ala407Thr Single submitter ⚠
- p.Arg144Gln Single submitter ⚠
- p.Arg238Cys Single submitter ⚠
- p.Arg319Gln Single submitter ⚠
- p.Arg343Gly Single submitter ⚠
- p.Arg86Thr Single submitter ⚠
- p.Asn196Ser Single submitter ⚠
- p.Asp131Val Single submitter ⚠
- p.Gln111His Single submitter ⚠
- p.Glu249Lys Single submitter ⚠
- p.Glu251Gln Single submitter ⚠
- p.Glu416Asp Single submitter ⚠
- p.Gly206Ser Single submitter ⚠
- p.Gly308Asp Single submitter ⚠
- p.Gly322Arg Single submitter ⚠
- p.Gly356Cys Single submitter ⚠
- p.Gly380Cys Single submitter ⚠
- p.His415Arg Single submitter ⚠
- p.Ile135Leu Single submitter ⚠
- p.Ile161Thr Single submitter ⚠
- p.Ile189Thr Single submitter ⚠
- p.Ile219Arg Single submitter ⚠
- p.Ile245Met Single submitter ⚠
- p.Leu242Met Single submitter ⚠
- p.Lys133Asn Single submitter ⚠
- p.Lys214Ile Single submitter ⚠
- p.Lys230Glu Single submitter ⚠
- p.Lys405Arg Single submitter ⚠
- p.Lys73Thr Single submitter ⚠
- p.Met156Thr Single submitter ⚠
- p.Met285Thr Single submitter ⚠
- p.Met335Thr Single submitter ⚠
- p.Phe124Cys Single submitter ⚠
- p.Pro171Arg Single submitter ⚠
- p.Pro300Ala Single submitter ⚠
- p.Pro351Arg Single submitter ⚠
- p.Ser187Thr Single submitter ⚠
- p.Ser424Asn Single submitter ⚠
- p.Thr141Pro Single submitter ⚠
- p.Thr306Met Single submitter ⚠
- p.Tyr274Cys Single submitter ⚠
- p.Val297Phe Single submitter ⚠
- p.Tyr136His No assertion criteria ⚠