Sugi Variant

Sugi Variant/PPM1K

PPM1K — 141 ClinVar variants

All ClinVar germline PPM1K variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 83 flagged for review →

2 Pathogenic · 1 Conflicting · 10 Benign · 1 Benign/Likely benign · 38 Likely benign · 89 Uncertain significance

Full PPM1K gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 83

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 agree, ClinVar conflicts 1

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 69

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification.

Predictors split 13

The independent predictors disagree with each other — read with care.

All PPM1K variants

Pathogenic 2

  • p.Arg196Ter Single submitter maple syrup urine disease, mild variant
  • p.Met1Val No assertion criteria maple syrup urine disease, mild variant

Conflicting classifications of pathogenicity 1

  • p.Arg176His Single submitter maple syrup urine disease, mild variant ⚠

Benign 10

  • p.Glu321Lys Multiple submitters maple syrup urine disease, mild variant
  • p.Phe113= Multiple submitters maple syrup urine disease, mild variant
  • p.Val326= Multiple submitters maple syrup urine disease, mild variant
  • c.441-14del Single submitter maple syrup urine disease, mild variant
  • c.441-7del Single submitter maple syrup urine disease, mild variant
  • c.707+7C>T Single submitter maple syrup urine disease, mild variant
  • c.708-116C>T Single submitter maple syrup urine disease, mild variant
  • c.708-169G>A Single submitter maple syrup urine disease, mild variant
  • c.988-16del Single submitter maple syrup urine disease, mild variant
  • p.Ala98= Single submitter maple syrup urine disease, mild variant

Benign/Likely benign 1

  • p.Thr161Ala Multiple submitters maple syrup urine disease, mild variant

Likely benign 38

  • p.Arg210Gln Multiple submitters maple syrup urine disease, mild variant
  • p.His286Gln Multiple submitters maple syrup urine disease, mild variant
  • c.441-8C>T Single submitter maple syrup urine disease, mild variant
  • c.542-15_542-14del Single submitter maple syrup urine disease, mild variant
  • c.542-9T>C Single submitter maple syrup urine disease, mild variant
  • c.707+15G>A Single submitter maple syrup urine disease, mild variant
  • c.708-5A>G Single submitter maple syrup urine disease, mild variant
  • c.852+14T>C Single submitter maple syrup urine disease, mild variant
  • c.987+9G>A Single submitter
  • c.987+9G>C Single submitter maple syrup urine disease, mild variant
  • c.988-10A>C Single submitter maple syrup urine disease, mild variant
  • c.988-16C>T Single submitter maple syrup urine disease, mild variant
  • p.Ala170= Single submitter maple syrup urine disease, mild variant
  • p.Ala175= Single submitter maple syrup urine disease, mild variant
  • p.Arg18= Single submitter maple syrup urine disease, mild variant
  • p.Arg230= Single submitter maple syrup urine disease, mild variant
  • p.Asn320= Single submitter maple syrup urine disease, mild variant
  • p.Asp268= Single submitter maple syrup urine disease, mild variant
  • p.Asp30= Single submitter maple syrup urine disease, mild variant
  • p.Cys97= Single submitter maple syrup urine disease, mild variant
  • p.Gln100= Single submitter maple syrup urine disease, mild variant
  • p.Glu153= Single submitter
  • p.Glu200= Single submitter maple syrup urine disease, mild variant
  • p.Gly207= Single submitter maple syrup urine disease, mild variant
  • p.Gly242= Single submitter maple syrup urine disease, mild variant
  • p.His129= Single submitter maple syrup urine disease, mild variant
  • p.His253= Single submitter maple syrup urine disease, mild variant
  • p.Leu194= Single submitter maple syrup urine disease, mild variant
  • p.Leu22= Single submitter maple syrup urine disease, mild variant
  • p.Lys234= Single submitter maple syrup urine disease, mild variant
  • p.Pro151= Single submitter maple syrup urine disease, mild variant
  • p.Pro219= Single submitter
  • p.Pro58= Single submitter maple syrup urine disease, mild variant
  • p.Ser360= Single submitter maple syrup urine disease, mild variant
  • p.Thr296= Single submitter maple syrup urine disease, mild variant
  • p.Tyr333= Single submitter maple syrup urine disease, mild variant
  • p.Ala325= No assertion criteria PPM1K-related disorder
  • p.Gly130= No assertion criteria PPM1K-related disorder

Uncertain significance 89