PDPK1 — 38 ClinVar variants
All ClinVar germline PDPK1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 33 flagged for review →
4 Likely benign · 34 Uncertain significance
Full PDPK1 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 32
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDPK1 p.Ala62Ser Uncertain significance Single submitter
- PDPK1 p.Arg546Gln Uncertain significance Single submitter
- PDPK1 p.Arg59Gln Uncertain significance Single submitter
- PDPK1 p.Asn378Ser Uncertain significance Single submitter
- PDPK1 p.Asn411Ser Uncertain significance Single submitter
- PDPK1 p.Cys385Phe Uncertain significance Single submitter
- PDPK1 p.Gln73Lys Uncertain significance Single submitter
- PDPK1 p.Glu57Lys Uncertain significance Single submitter
- PDPK1 p.Glu80Gln Uncertain significance Single submitter
- PDPK1 p.Gly43Arg Uncertain significance Single submitter
- PDPK1 p.Gly445Arg Uncertain significance Single submitter
- PDPK1 p.Gly445Val Uncertain significance Single submitter
- PDPK1 p.Gly468Asp Uncertain significance Single submitter
- PDPK1 p.Gly48Asp Uncertain significance Single submitter
- PDPK1 p.Gly61Ala Uncertain significance Single submitter
- PDPK1 p.Gly63Ser Uncertain significance Single submitter
- PDPK1 p.His395Gln Uncertain significance Single submitter
- PDPK1 p.Leu437Trp Uncertain significance Single submitter
- PDPK1 p.Leu65Gln Uncertain significance Single submitter
- PDPK1 p.Met51Val Uncertain significance Single submitter
- PDPK1 p.Met526Leu Uncertain significance Single submitter
- PDPK1 p.Pro489Ser Uncertain significance Single submitter
- PDPK1 p.Pro499Thr Uncertain significance Single submitter
- PDPK1 p.Pro71Leu Uncertain significance Single submitter
- PDPK1 p.Pro72Leu Uncertain significance Single submitter
- PDPK1 p.Ser421Leu Uncertain significance Single submitter
- PDPK1 p.Ser421Trp Uncertain significance Single submitter
- PDPK1 p.Ser45Gly Uncertain significance Single submitter
- PDPK1 p.Thr402Met Uncertain significance Single submitter
- PDPK1 p.Thr522Met Uncertain significance Single submitter
- PDPK1 p.Val143Ile Uncertain significance Single submitter
- PDPK1 p.Val243Met Uncertain significance Single submitter
Predictors split 1
The independent predictors disagree with each other — read with care.
All PDPK1 variants
Likely benign 4
- p.Thr402Ala Single submitter
- p.Asn531= No assertion criteria PDPK1-related disorder
- p.Asp552= No assertion criteria PDPK1-related disorder
- p.Pro551= No assertion criteria PDPK1-related disorder
Uncertain significance 34
- p.Ala62Ser Single submitter ⚠
- p.Arg546Gln Single submitter ⚠
- p.Arg59Gln Single submitter ⚠
- p.Asn378Ser Single submitter ⚠
- p.Asn411Ser Single submitter ⚠
- p.Asp427His Single submitter
- p.Cys385Phe Single submitter ⚠
- p.Gln73Lys Single submitter ⚠
- p.Glu57Lys Single submitter ⚠
- p.Glu80Gln Single submitter ⚠
- p.Gly43Arg Single submitter ⚠
- p.Gly445Arg Single submitter ⚠
- p.Gly445Val Single submitter ⚠
- p.Gly468Asp Single submitter ⚠
- p.Gly48Asp Single submitter ⚠
- p.Gly61Ala Single submitter ⚠
- p.Gly63Ser Single submitter ⚠
- p.His395Gln Single submitter ⚠
- p.Leu437Trp Single submitter ⚠
- p.Leu65Gln Single submitter ⚠
- p.Met51Val Single submitter ⚠
- p.Met526Leu Single submitter ⚠
- p.Pro489Ser Single submitter ⚠
- p.Pro499Thr Single submitter ⚠
- p.Pro71Leu Single submitter ⚠
- p.Pro72Leu Single submitter ⚠
- p.Ser258Phe Single submitter ⚠
- p.Ser421Leu Single submitter ⚠
- p.Ser421Trp Single submitter ⚠
- p.Ser45Gly Single submitter ⚠
- p.Thr402Met Single submitter ⚠
- p.Thr522Met Single submitter ⚠
- p.Val143Ile Single submitter ⚠
- p.Val243Met Single submitter ⚠