PPP5C — 49 ClinVar variants
All ClinVar germline PPP5C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 43 flagged for review →
1 Conflicting · 3 Likely benign · 45 Uncertain significance
Full PPP5C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions⚑ Evidence disagreements 43
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 37
ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.
- PPP5C p.Ala115Thr Uncertain significance Single submitter
-
PPP5C p.Ala153Gly
Uncertain significance
Single submitter
PPP5C-related disorder
- PPP5C p.Ala325Val Uncertain significance Single submitter
- PPP5C p.Ala54Ser Uncertain significance Single submitter
- PPP5C p.Ala62Thr Uncertain significance Single submitter
- PPP5C p.Arg150Trp Uncertain significance Single submitter
- PPP5C p.Arg159His Uncertain significance Single submitter
- PPP5C p.Arg275Gln Uncertain significance Single submitter
- PPP5C p.Arg441Cys Uncertain significance Single submitter
- PPP5C p.Arg470Gln Uncertain significance Single submitter
- PPP5C p.Arg470Leu Uncertain significance Single submitter
- PPP5C p.Asp131Tyr Uncertain significance Single submitter
- PPP5C p.Asp155Asn Uncertain significance Single submitter
- PPP5C p.Asp200Glu Uncertain significance Single submitter
- PPP5C p.Asp274Tyr Uncertain significance Single submitter
- PPP5C p.Asp295Gly Uncertain significance Single submitter
- PPP5C p.Asp43Glu Uncertain significance Single submitter
- PPP5C p.Gln53Arg Uncertain significance Single submitter
- PPP5C p.Glu168Lys Uncertain significance Single submitter
- PPP5C p.Gly23Glu Uncertain significance Single submitter
- PPP5C p.Gly276Ala Uncertain significance Single submitter
- PPP5C p.Gly346Ser Uncertain significance Single submitter
- PPP5C p.Gly83Val Uncertain significance Single submitter
- PPP5C p.His474Arg Uncertain significance Single submitter
- PPP5C p.Ile142Met Uncertain significance Single submitter
- PPP5C p.Pro14Arg Uncertain significance Single submitter
- PPP5C p.Pro15Arg Uncertain significance Single submitter
- PPP5C p.Pro20Ala Uncertain significance Single submitter
- PPP5C p.Pro20Leu Uncertain significance Single submitter
- PPP5C p.Ser177Asn Uncertain significance Single submitter
- PPP5C p.Thr121Met Uncertain significance Single submitter
- PPP5C p.Thr229Ile Uncertain significance Single submitter
- PPP5C p.Thr492Met Uncertain significance Single submitter
- PPP5C p.Thr9Ile Uncertain significance Single submitter
- PPP5C p.Val410Ile Uncertain significance Single submitter
- PPP5C p.Val445Ile Uncertain significance Single submitter
-
PPP5C p.Ala47Thr
Uncertain significance
No assertion criteria
PPP5C-related disorder
Predictors split 6
The independent predictors disagree with each other — read with care.
- PPP5C p.Arg470Trp Uncertain significance Single submitter
- PPP5C p.Cys343Tyr Uncertain significance Single submitter
- PPP5C p.Glu432Lys Conflicting Single submitter
-
PPP5C p.Leu73Val
Uncertain significance
Single submitter
neurodevelopmental disorder
- PPP5C p.Lys133Asn Uncertain significance Single submitter
- PPP5C p.Ser357Gly Uncertain significance Single submitter
All PPP5C variants
Conflicting classifications of pathogenicity 1
- p.Glu432Lys Single submitter ⚠
Likely benign 3
- c.512-4C>T Single submitter
- p.Glu305= No assertion criteria PPP5C-related disorder
- p.Ser164= No assertion criteria PPP5C-related disorder
Uncertain significance 45
- p.Ala115Thr Single submitter ⚠
- p.Ala153Gly Single submitter PPP5C-related disorder ⚠
- p.Ala325Val Single submitter ⚠
- p.Ala54Ser Single submitter ⚠
- p.Ala62Thr Single submitter ⚠
- p.Arg150Trp Single submitter ⚠
- p.Arg159His Single submitter ⚠
- p.Arg275Gln Single submitter ⚠
- p.Arg441Cys Single submitter ⚠
- p.Arg470Gln Single submitter ⚠
- p.Arg470Leu Single submitter ⚠
- p.Arg470Trp Single submitter ⚠
- p.Asp131Tyr Single submitter ⚠
- p.Asp155Asn Single submitter ⚠
- p.Asp200Glu Single submitter ⚠
- p.Asp274Tyr Single submitter ⚠
- p.Asp295Gly Single submitter ⚠
- p.Asp43Glu Single submitter ⚠
- p.Cys343Tyr Single submitter ⚠
- p.Gln53Arg Single submitter ⚠
- p.Glu168Lys Single submitter ⚠
- p.Glu316Lys Single submitter
- p.Gly23Glu Single submitter ⚠
- p.Gly276Ala Single submitter ⚠
- p.Gly346Ser Single submitter ⚠
- p.Gly83Val Single submitter ⚠
- p.His474Arg Single submitter ⚠
- p.Ile142Met Single submitter ⚠
- p.Leu73Val Single submitter neurodevelopmental disorder ⚠
- p.Lys133Asn Single submitter ⚠
- p.Pro14Arg Single submitter ⚠
- p.Pro15Arg Single submitter ⚠
- p.Pro20Ala Single submitter ⚠
- p.Pro20Leu Single submitter ⚠
- p.Ser177Asn Single submitter ⚠
- p.Ser357Gly Single submitter ⚠
- p.Thr121Met Single submitter ⚠
- p.Thr229Ile Single submitter ⚠
- p.Thr492Met Single submitter ⚠
- p.Thr75Ile Single submitter
- p.Thr9Ile Single submitter ⚠
- p.Val410Ile Single submitter ⚠
- p.Val445Ile Single submitter ⚠
- p.Ala47Thr No assertion criteria PPP5C-related disorder ⚠
- p.Arg16fs No assertion criteria PPP5C-related disorder