PLP2 — 20 ClinVar variants
All ClinVar germline PLP2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 17 flagged for review →
1 Benign · 2 Likely benign · 17 Uncertain significance
Full PLP2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 17
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 13
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PLP2 p.Ala2Val Uncertain significance Single submitter
- PLP2 p.Arg136Trp Uncertain significance Single submitter
- PLP2 p.Arg21His Uncertain significance Single submitter
- PLP2 p.Ile33Val Uncertain significance Single submitter
- PLP2 p.Ile55Thr Uncertain significance Single submitter
- PLP2 p.Ile90Thr Uncertain significance Single submitter
- PLP2 p.Ile97Val Uncertain significance Single submitter
- PLP2 p.Pro10Ser Uncertain significance Single submitter
- PLP2 p.Pro138Arg Uncertain significance Single submitter
- PLP2 p.Pro81Ala Uncertain significance Single submitter
- PLP2 p.Thr122Met Uncertain significance Single submitter
- PLP2 p.Trp80Arg Uncertain significance Single submitter
- PLP2 p.Val113Phe Uncertain significance Single submitter
Predictors split 4
The independent predictors disagree with each other — read with care.
All PLP2 variants
Benign 1
- p.Arg6Cys Multiple submitters
Likely benign 2
- p.Pro147= Single submitter
- p.Val113Ile Single submitter
Uncertain significance 17
- p.Ala121Pro Single submitter ⚠
- p.Ala2Val Single submitter ⚠
- p.Arg136Trp Single submitter ⚠
- p.Arg21His Single submitter ⚠
- p.Arg87Gln Single submitter ⚠
- p.Gly118Ser Single submitter ⚠
- p.Ile33Val Single submitter ⚠
- p.Ile55Thr Single submitter ⚠
- p.Ile90Thr Single submitter ⚠
- p.Ile97Val Single submitter ⚠
- p.Pro10Ser Single submitter ⚠
- p.Pro138Arg Single submitter ⚠
- p.Pro81Ala Single submitter ⚠
- p.Thr122Met Single submitter ⚠
- p.Trp80Arg Single submitter ⚠
- p.Tyr95Cys Single submitter ⚠
- p.Val113Phe Single submitter ⚠