PGAM1 — 44 ClinVar variants
All ClinVar germline PGAM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →
3 Benign · 41 Uncertain significance
Full PGAM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 39
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 29
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PGAM1 p.Ala105Val Uncertain significance Single submitter
- PGAM1 p.Ala163Thr Uncertain significance Single submitter
- PGAM1 p.Ala248Thr Uncertain significance Single submitter
- PGAM1 p.Ala73Gly Uncertain significance Single submitter
- PGAM1 p.Arg117Cys Uncertain significance Single submitter
- PGAM1 p.Arg117Leu Uncertain significance Single submitter
- PGAM1 p.Arg65Trp Uncertain significance Single submitter
- PGAM1 p.Asp235Ala Uncertain significance Single submitter
- PGAM1 p.Cys55Ser Uncertain significance Single submitter
- PGAM1 p.Glu237Lys Uncertain significance Single submitter
- PGAM1 p.Gly12Ser Uncertain significance Single submitter
- PGAM1 p.Gly93Arg Uncertain significance Single submitter
- PGAM1 p.Gly94Cys Uncertain significance Single submitter
- PGAM1 p.Gly97Ser Uncertain significance Single submitter
- PGAM1 p.Ile160Ser Uncertain significance Single submitter
- PGAM1 p.Ile171Val Uncertain significance Single submitter
- PGAM1 p.Ile193Thr Uncertain significance Single submitter
- PGAM1 p.Ile216Leu Uncertain significance Single submitter
- PGAM1 p.Ile227Val Uncertain significance Single submitter
- PGAM1 p.Leu200Val Uncertain significance Single submitter
- PGAM1 p.Lys100Ile Uncertain significance Single submitter
- PGAM1 p.Lys113Thr Uncertain significance Single submitter
- PGAM1 p.Lys195Glu Uncertain significance Single submitter
- PGAM1 p.Phe52Ser Uncertain significance Single submitter
- PGAM1 p.Pro211Leu Uncertain significance Single submitter
- PGAM1 p.Pro80Leu Uncertain significance Single submitter
- PGAM1 p.Tyr119Cys Uncertain significance Single submitter
- PGAM1 p.Tyr133Cys Uncertain significance Single submitter
- PGAM1 p.Tyr26Cys Uncertain significance Single submitter
Predictors split 10
The independent predictors disagree with each other — read with care.
- PGAM1 p.Ala105Gly Uncertain significance Single submitter
- PGAM1 p.Ala48Val Uncertain significance Single submitter
- PGAM1 p.Arg240His Uncertain significance Single submitter
- PGAM1 p.Asp120Ala Uncertain significance Single submitter
- PGAM1 p.Leu200Phe Uncertain significance Single submitter
- PGAM1 p.Lys228Gln Uncertain significance Single submitter
- PGAM1 p.Lys254Thr Uncertain significance Single submitter
- PGAM1 p.Met230Val Uncertain significance Single submitter
- PGAM1 p.Ser23Arg Uncertain significance Single submitter
- PGAM1 p.Tyr4Cys Uncertain significance Single submitter
All PGAM1 variants
Uncertain significance 41
- p.Ala105Gly Single submitter ⚠
- p.Ala105Val Single submitter ⚠
- p.Ala163Thr Single submitter ⚠
- p.Ala248Thr Single submitter ⚠
- p.Ala2Val Single submitter
- p.Ala48Val Single submitter ⚠
- p.Ala73Gly Single submitter ⚠
- p.Arg117Cys Single submitter ⚠
- p.Arg117Leu Single submitter ⚠
- p.Arg140His Single submitter
- p.Arg240His Single submitter ⚠
- p.Arg65Trp Single submitter ⚠
- p.Asp120Ala Single submitter ⚠
- p.Asp235Ala Single submitter ⚠
- p.Cys55Ser Single submitter ⚠
- p.Glu237Lys Single submitter ⚠
- p.Gly12Ser Single submitter ⚠
- p.Gly93Arg Single submitter ⚠
- p.Gly94Cys Single submitter ⚠
- p.Gly97Ser Single submitter ⚠
- p.Ile160Ser Single submitter ⚠
- p.Ile171Val Single submitter ⚠
- p.Ile193Thr Single submitter ⚠
- p.Ile216Leu Single submitter ⚠
- p.Ile227Val Single submitter ⚠
- p.Leu200Phe Single submitter ⚠
- p.Leu200Val Single submitter ⚠
- p.Lys100Ile Single submitter ⚠
- p.Lys113Thr Single submitter ⚠
- p.Lys195Glu Single submitter ⚠
- p.Lys228Gln Single submitter ⚠
- p.Lys254Thr Single submitter ⚠
- p.Met230Val Single submitter ⚠
- p.Phe52Ser Single submitter ⚠
- p.Pro211Leu Single submitter ⚠
- p.Pro80Leu Single submitter ⚠
- p.Ser23Arg Single submitter ⚠
- p.Tyr119Cys Single submitter ⚠
- p.Tyr133Cys Single submitter ⚠
- p.Tyr26Cys Single submitter ⚠
- p.Tyr4Cys Single submitter ⚠