PNMT — 53 ClinVar variants
All ClinVar germline PNMT variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 48 flagged for review →
2 Benign · 3 Likely benign · 48 Uncertain significance
Full PNMT gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 48
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 35
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PNMT p.Ala21Glu Uncertain significance Single submitter
- PNMT p.Ala227Thr Uncertain significance Single submitter
- PNMT p.Ala24Ser Uncertain significance Single submitter
- PNMT p.Ala41Val Uncertain significance Single submitter
- PNMT p.Arg240Thr Uncertain significance Single submitter
- PNMT p.Arg37Cys Uncertain significance Single submitter
- PNMT p.Arg37Leu Uncertain significance Single submitter
- PNMT p.Arg59His Uncertain significance Single submitter
- PNMT p.Asp158Asn Uncertain significance Single submitter
- PNMT p.Asp158His Uncertain significance Single submitter
- PNMT p.Cys139Tyr Uncertain significance Single submitter
- PNMT p.Cys48Arg Uncertain significance Single submitter
- PNMT p.Gln161His Uncertain significance Single submitter
- PNMT p.Glu185Val Uncertain significance Single submitter
- PNMT p.Glu226Lys Uncertain significance Single submitter
- PNMT p.Gly111Arg Uncertain significance Single submitter
- PNMT p.Gly225Trp Uncertain significance Single submitter
- PNMT p.Gly45Ala Uncertain significance Single submitter
- PNMT p.Gly52Cys Uncertain significance Single submitter
- PNMT p.Gly52Ser Uncertain significance Single submitter
- PNMT p.His129Arg Uncertain significance Single submitter
- PNMT p.His160Tyr Uncertain significance Single submitter
- PNMT p.Ile133Thr Uncertain significance Single submitter
- PNMT p.Ile133Val Uncertain significance Single submitter
- PNMT p.Ile76Val Uncertain significance Single submitter
- PNMT p.Leu75Pro Uncertain significance Single submitter
- PNMT p.Lys57Arg Uncertain significance Single submitter
- PNMT p.Ser71Ala Uncertain significance Single submitter
- PNMT p.Thr100Ala Uncertain significance Single submitter
- PNMT p.Thr203Arg Uncertain significance Single submitter
- PNMT p.Trp123Cys Uncertain significance Single submitter
- PNMT p.Tyr256Cys Uncertain significance Single submitter
- PNMT p.Val266Ile Uncertain significance Single submitter
- PNMT p.Val280Leu Uncertain significance Single submitter
- PNMT p.Val84Met Uncertain significance Single submitter
Predictors split 13
The independent predictors disagree with each other — read with care.
- PNMT p.Ala175Thr Benign Single submitter
- PNMT p.Ala26Pro Uncertain significance Single submitter
- PNMT p.Ala66Pro Uncertain significance Single submitter
- PNMT p.Arg112Cys Likely benign Single submitter
- PNMT p.Arg145His Uncertain significance Single submitter
- PNMT p.Arg73Cys Uncertain significance Single submitter
- PNMT p.Asn38Lys Uncertain significance Single submitter
- PNMT p.Gly119Arg Uncertain significance Single submitter
- PNMT p.Phe194Leu Uncertain significance Single submitter
- PNMT p.Pro207Ser Uncertain significance Single submitter
- PNMT p.Pro259Leu Uncertain significance Single submitter
- PNMT p.Thr74Ile Uncertain significance Single submitter
- PNMT p.Val84Ala Uncertain significance Single submitter
All PNMT variants
Benign 2
- p.Ala41= Multiple submitters
- p.Ala175Thr Single submitter ⚠
Likely benign 3
- p.Arg112Cys Single submitter ⚠
- p.Arg245His Single submitter
- p.Val272Ile Single submitter
Uncertain significance 48
- p.Ala21Glu Single submitter ⚠
- p.Ala227Thr Single submitter ⚠
- p.Ala24Ser Single submitter ⚠
- p.Ala26Pro Single submitter ⚠
- p.Ala41Val Single submitter ⚠
- p.Ala66Pro Single submitter ⚠
- p.Arg107His Single submitter
- p.Arg145His Single submitter ⚠
- p.Arg240Thr Single submitter ⚠
- p.Arg37Cys Single submitter ⚠
- p.Arg37Leu Single submitter ⚠
- p.Arg59His Single submitter ⚠
- p.Arg73Cys Single submitter ⚠
- p.Asn38Lys Single submitter ⚠
- p.Asp158Asn Single submitter ⚠
- p.Asp158His Single submitter ⚠
- p.Cys139Tyr Single submitter ⚠
- p.Cys48Arg Single submitter ⚠
- p.Gln161His Single submitter ⚠
- p.Glu185Val Single submitter ⚠
- p.Glu226Lys Single submitter ⚠
- p.Gly111Arg Single submitter ⚠
- p.Gly119Arg Single submitter ⚠
- p.Gly225Trp Single submitter ⚠
- p.Gly45Ala Single submitter ⚠
- p.Gly52Cys Single submitter ⚠
- p.Gly52Ser Single submitter ⚠
- p.His129Arg Single submitter ⚠
- p.His160Tyr Single submitter ⚠
- p.Ile133Thr Single submitter ⚠
- p.Ile133Val Single submitter ⚠
- p.Ile214Thr Single submitter
- p.Ile76Val Single submitter ⚠
- p.Leu75Pro Single submitter ⚠
- p.Lys57Arg Single submitter ⚠
- p.Phe194Leu Single submitter ⚠
- p.Pro207Ser Single submitter ⚠
- p.Pro259Leu Single submitter ⚠
- p.Ser71Ala Single submitter ⚠
- p.Thr100Ala Single submitter ⚠
- p.Thr203Arg Single submitter ⚠
- p.Thr74Ile Single submitter ⚠
- p.Trp123Cys Single submitter ⚠
- p.Tyr256Cys Single submitter ⚠
- p.Val266Ile Single submitter ⚠
- p.Val280Leu Single submitter ⚠
- p.Val84Ala Single submitter ⚠
- p.Val84Met Single submitter ⚠