PDHA2 — 62 ClinVar variants
All ClinVar germline PDHA2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 56 flagged for review →
1 Likely pathogenic · 3 Benign · 58 Uncertain significance
Full PDHA2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 56
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 43
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PDHA2 p.Ala18Pro Uncertain significance Single submitter
- PDHA2 p.Ala18Val Uncertain significance Single submitter
- PDHA2 p.Ala197Val Uncertain significance Single submitter
- PDHA2 p.Ala32Val Uncertain significance Single submitter
- PDHA2 p.Ala347Gly Uncertain significance Single submitter
- PDHA2 p.Ala348Thr Uncertain significance Single submitter
- PDHA2 p.Arg12Gln Uncertain significance Single submitter
- PDHA2 p.Arg19Leu Uncertain significance Single submitter
- PDHA2 p.Arg286Cys Uncertain significance Single submitter
- PDHA2 p.Arg8Cys Uncertain significance Single submitter
- PDHA2 p.Arg8Ser Uncertain significance Single submitter
- PDHA2 p.Asn222Asp Uncertain significance Single submitter
- PDHA2 p.Asp346Ala Uncertain significance Single submitter
- PDHA2 p.Asp77Glu Uncertain significance Single submitter
- PDHA2 p.Cys143Arg Uncertain significance Single submitter
- PDHA2 p.Cys92Gly Uncertain significance Single submitter
- PDHA2 p.Cys98Tyr Uncertain significance Single submitter
- PDHA2 p.Gln82His Uncertain significance Single submitter
- PDHA2 p.Glu135Gly Uncertain significance Single submitter
- PDHA2 p.Glu186Lys Uncertain significance Single submitter
- PDHA2 p.Glu332Lys Uncertain significance Single submitter
- PDHA2 p.Glu339Lys Uncertain significance Single submitter
- PDHA2 p.Gly101Arg Uncertain significance Single submitter
- PDHA2 p.Gly105Ala Uncertain significance Single submitter
- PDHA2 p.Gly105Ser Uncertain significance Single submitter
- PDHA2 p.Gly160Glu Uncertain significance Single submitter
- PDHA2 p.Gly163Asp Uncertain significance Single submitter
- PDHA2 p.Gly166Asp Uncertain significance Single submitter
- PDHA2 p.Gly226Val Uncertain significance Single submitter
- PDHA2 p.Gly289Ala Uncertain significance Single submitter
- PDHA2 p.Ile202Val Uncertain significance Single submitter
- PDHA2 p.Ile6Phe Uncertain significance Single submitter
- PDHA2 p.Phe158Val Uncertain significance Single submitter
- PDHA2 p.Phe5Ser Uncertain significance Single submitter
- PDHA2 p.Pro248Ser Uncertain significance Single submitter
- PDHA2 p.Ser371Thr Uncertain significance Single submitter
- PDHA2 p.Thr190Ala Uncertain significance Single submitter
- PDHA2 p.Tyr116Cys Uncertain significance Single submitter
- PDHA2 p.Tyr159Asn Uncertain significance Single submitter
- PDHA2 p.Tyr159Cys Uncertain significance Single submitter
- PDHA2 p.Val308Ile Uncertain significance Single submitter
- PDHA2 p.Val387Phe Uncertain significance Single submitter
- PDHA2 p.Val9Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- PDHA2 p.Ala173Gly Uncertain significance Single submitter
- PDHA2 p.Arg376His Uncertain significance Single submitter
- PDHA2 p.Asp253Asn Uncertain significance Single submitter
- PDHA2 p.Asp256Asn Uncertain significance Single submitter
- PDHA2 p.Glu307Gly Uncertain significance Single submitter
- PDHA2 p.Glu331Lys Uncertain significance Single submitter
- PDHA2 p.Gly120Ser Uncertain significance Single submitter
- PDHA2 p.Gly183Val Uncertain significance Single submitter
- PDHA2 p.Ile315Val Uncertain significance Single submitter
- PDHA2 p.Ile85Thr Uncertain significance Single submitter
- PDHA2 p.Thr190Pro Uncertain significance Single submitter
- PDHA2 p.Thr68Ile Uncertain significance Single submitter
- PDHA2 p.Tyr63Cys Uncertain significance Single submitter
All PDHA2 variants
Likely pathogenic 1
- p.Met227Val Multiple submitters spermatogenic failure 70
Benign 3
- p.Arg286Pro Single submitter
- p.Cys99= Single submitter
- p.Val21Glu Single submitter
Uncertain significance 58
- p.Ala173Gly Single submitter ⚠
- p.Ala18Pro Single submitter ⚠
- p.Ala18Val Single submitter ⚠
- p.Ala197Val Single submitter ⚠
- p.Ala32Val Single submitter ⚠
- p.Ala347Gly Single submitter ⚠
- p.Ala348Thr Single submitter ⚠
- p.Arg125Trp Single submitter
- p.Arg12Gln Single submitter ⚠
- p.Arg19Leu Single submitter ⚠
- p.Arg286Cys Single submitter ⚠
- p.Arg376His Single submitter ⚠
- p.Arg8Cys Single submitter ⚠
- p.Arg8Ser Single submitter ⚠
- p.Asn222Asp Single submitter ⚠
- p.Asp253Asn Single submitter ⚠
- p.Asp256Asn Single submitter ⚠
- p.Asp346Ala Single submitter ⚠
- p.Asp77Glu Single submitter ⚠
- p.Cys143Arg Single submitter ⚠
- p.Cys92Gly Single submitter ⚠
- p.Cys98Tyr Single submitter ⚠
- p.Gln82His Single submitter ⚠
- p.Glu135Gly Single submitter ⚠
- p.Glu186Lys Single submitter ⚠
- p.Glu307Gly Single submitter ⚠
- p.Glu331Lys Single submitter ⚠
- p.Glu332Lys Single submitter ⚠
- p.Glu339Lys Single submitter ⚠
- p.Glu356Asp Single submitter
- p.Gly101Arg Single submitter ⚠
- p.Gly105Ala Single submitter ⚠
- p.Gly105Ser Single submitter ⚠
- p.Gly120Ser Single submitter ⚠
- p.Gly160Glu Single submitter ⚠
- p.Gly163Asp Single submitter ⚠
- p.Gly166Asp Single submitter ⚠
- p.Gly183Val Single submitter ⚠
- p.Gly226Val Single submitter ⚠
- p.Gly289Ala Single submitter ⚠
- p.Ile202Val Single submitter ⚠
- p.Ile315Val Single submitter ⚠
- p.Ile6Phe Single submitter ⚠
- p.Ile85Thr Single submitter ⚠
- p.Phe158Val Single submitter ⚠
- p.Phe5Ser Single submitter ⚠
- p.Pro248Ser Single submitter ⚠
- p.Ser371Thr Single submitter ⚠
- p.Thr190Ala Single submitter ⚠
- p.Thr190Pro Single submitter ⚠
- p.Thr68Ile Single submitter ⚠
- p.Tyr116Cys Single submitter ⚠
- p.Tyr159Asn Single submitter ⚠
- p.Tyr159Cys Single submitter ⚠
- p.Tyr63Cys Single submitter ⚠
- p.Val308Ile Single submitter ⚠
- p.Val387Phe Single submitter ⚠
- p.Val9Met Single submitter ⚠