PPME1 — 29 ClinVar variants
All ClinVar germline PPME1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 26 flagged for review →
2 Likely benign · 27 Uncertain significance
Full PPME1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 26
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 19
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPME1 p.Ala364Gly Uncertain significance Single submitter
- PPME1 p.Ala98Glu Uncertain significance Single submitter
- PPME1 p.Arg12Leu Uncertain significance Single submitter
- PPME1 p.Arg16Leu Uncertain significance Single submitter
- PPME1 p.Arg199Trp Uncertain significance Single submitter
- PPME1 p.Arg228Cys Uncertain significance Single submitter
- PPME1 p.Asn169Ser Uncertain significance Single submitter
- PPME1 p.Asn307Ser Uncertain significance Single submitter
- PPME1 p.Asp40Gly Uncertain significance Single submitter
- PPME1 p.Glu124Asp Uncertain significance Single submitter
- PPME1 p.Glu57Asp Uncertain significance Single submitter
- PPME1 p.His9Gln Uncertain significance Single submitter
- PPME1 p.Ile268Thr Uncertain significance Single submitter
- PPME1 p.Lys273Gln Uncertain significance Single submitter
- PPME1 p.Lys280Asn Uncertain significance Single submitter
- PPME1 p.Lys281Asn Uncertain significance Single submitter
- PPME1 p.Met341Ile Uncertain significance Single submitter
- PPME1 p.Pro384Ser Uncertain significance Single submitter
- PPME1 p.Val382Met Uncertain significance Single submitter
Predictors split 7
The independent predictors disagree with each other — read with care.
- PPME1 p.Arg32Gly Uncertain significance Single submitter
- PPME1 p.Arg39Gln Uncertain significance Single submitter
- PPME1 p.Arg68Gln Uncertain significance Single submitter
- PPME1 p.Met179Lys Uncertain significance Single submitter
- PPME1 p.Met231Val Uncertain significance Single submitter
- PPME1 p.Thr96Met Uncertain significance Single submitter
- PPME1 p.Val44Phe Uncertain significance Single submitter
All PPME1 variants
Likely benign 2
- p.Gly34= Single submitter
- p.Pro45Ser Single submitter
Uncertain significance 27
- p.Ala364Gly Single submitter ⚠
- p.Ala98Glu Single submitter ⚠
- p.Arg12Leu Single submitter ⚠
- p.Arg16Leu Single submitter ⚠
- p.Arg199Trp Single submitter ⚠
- p.Arg228Cys Single submitter ⚠
- p.Arg32Gly Single submitter ⚠
- p.Arg39Gln Single submitter ⚠
- p.Arg68Gln Single submitter ⚠
- p.Asn169Ser Single submitter ⚠
- p.Asn307Ser Single submitter ⚠
- p.Asp40Gly Single submitter ⚠
- p.Glu124Asp Single submitter ⚠
- p.Glu57Asp Single submitter ⚠
- p.His9Gln Single submitter ⚠
- p.Ile268Thr Single submitter ⚠
- p.Leu174Phe Single submitter
- p.Lys273Gln Single submitter ⚠
- p.Lys280Asn Single submitter ⚠
- p.Lys281Asn Single submitter ⚠
- p.Met179Lys Single submitter ⚠
- p.Met231Val Single submitter ⚠
- p.Met341Ile Single submitter ⚠
- p.Pro384Ser Single submitter ⚠
- p.Thr96Met Single submitter ⚠
- p.Val382Met Single submitter ⚠
- p.Val44Phe Single submitter ⚠