PPM1F — 136 ClinVar variants

All ClinVar germline PPM1F variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 84 flagged for review →

2 Conflicting · 18 Benign · 29 Likely benign · 87 Uncertain significance

Full PPM1F gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 84

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 2

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

Predictors lean, ClinVar uncertain 70

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

Predictors split 12

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

All PPM1F variants

Conflicting classifications of pathogenicity 2

p.Ala395Ser Single submitter ⚠
p.Thr19Ile Single submitter ⚠

Benign 18

p.Ser385= Multiple submitters
c.206+4G>T Single submitter
c.558+13G>A Single submitter
c.559-13A>G Single submitter
c.985+13G>A Single submitter
p.Ala161= Single submitter
p.Ala260Val Single submitter ⚠
p.Ala265= Single submitter
p.Arg132Cys Single submitter
p.Asn216= Single submitter
p.Gln449Glu Single submitter
p.Glu105= Single submitter
p.Glu113del Single submitter
p.Leu185= Single submitter
p.Leu420Arg Single submitter
p.Ser14Thr Single submitter
p.Thr321= Single submitter
p.Thr47Met Single submitter

Likely benign 29

p.Arg388His Multiple submitters
c.355+20A>G Single submitter
c.356-6C>T Single submitter
c.747+14G>A Single submitter
c.747+16T>C Single submitter
c.748-16C>T Single submitter
c.891+16C>T Single submitter
c.891+18C>A Single submitter
c.891+7G>T Single submitter
c.986-10G>T Single submitter
c.986-17C>T Single submitter
p.Ala301= Single submitter
p.Ala323= Single submitter
p.Ala390= Single submitter
p.Arg100= Single submitter
p.Glu104= Single submitter
p.Glu107Asp Single submitter
p.Glu170= Single submitter
p.Gly339= Single submitter
p.His212= Single submitter
p.Leu119= Single submitter
p.Phe130= Single submitter
p.Phe183= Single submitter
p.Ser345= Single submitter
p.Ser351= Single submitter
p.Ser85= Single submitter
p.Thr238= Single submitter
p.Thr407= Single submitter
p.Val136= Single submitter

Uncertain significance 87

p.Arg149Gln Multiple submitters ⚠
p.Glu103Lys Multiple submitters ⚠
p.Glu82Lys Multiple submitters ⚠
p.Gly320Arg Multiple submitters ⚠
p.Gly386Glu Multiple submitters ⚠
p.His378Tyr Multiple submitters ⚠
p.Met63Val Multiple submitters ⚠
p.Pro430Leu Multiple submitters ⚠
p.Pro45Leu Multiple submitters ⚠
p.Thr215Ser Multiple submitters ⚠
c.986-19_987dup Single submitter
p.Ala137Thr Single submitter ⚠
p.Ala217Thr Single submitter ⚠
p.Ala230Thr Single submitter ⚠
p.Ala234Gly Single submitter ⚠
p.Ala234Ser Single submitter ⚠
p.Ala343Gly Single submitter ⚠
p.Ala343Thr Single submitter ⚠
p.Ala390Thr Single submitter ⚠
p.Ala432Glu Single submitter ⚠
p.Ala76Asp Single submitter ⚠
p.Ala77Val Single submitter ⚠
p.Arg100Gly Single submitter ⚠
p.Arg132His Single submitter ⚠
p.Arg153Trp Single submitter ⚠
p.Arg163Gln Single submitter ⚠
p.Arg172Gln Single submitter ⚠
p.Arg207Ser Single submitter ⚠
p.Arg219Cys Single submitter ⚠
p.Arg237Cys Single submitter ⚠
p.Arg237His Single submitter ⚠
p.Arg248Gln Single submitter ⚠
p.Arg250Gln Single submitter ⚠
p.Arg250Trp Single submitter ⚠
p.Arg302His Single submitter ⚠
p.Arg346Gln Single submitter ⚠
p.Arg346Trp Single submitter ⚠
p.Arg398Gln Single submitter ⚠
p.Arg96Lys Single submitter ⚠
p.Asn180Lys Single submitter ⚠
p.Asn216Ser Single submitter ⚠
p.Asp109Asn Single submitter ⚠
p.Asp109Tyr Single submitter ⚠
p.Asp330His Single submitter ⚠
p.Asp342Asn Single submitter
p.Asp415Asn Single submitter ⚠
p.Gln143Lys Single submitter ⚠
p.Gln369Glu Single submitter ⚠
p.Glu107del Single submitter
p.Glu111Gln Single submitter ⚠
p.Glu111Lys Single submitter ⚠
p.Glu113Asp Single submitter ⚠
p.Glu113Lys Single submitter ⚠
p.Glu391Lys Single submitter ⚠
p.Glu421Gly Single submitter ⚠
p.Glu433Gly Single submitter ⚠
p.Gly138Asp Single submitter ⚠
p.Gly15Glu Single submitter ⚠
p.Gly15Val Single submitter ⚠
p.Gly201Arg Single submitter ⚠
p.Gly229Arg Single submitter ⚠
p.Gly254Ser Single submitter ⚠
p.Gly423Arg Single submitter ⚠
p.Gly434Glu Single submitter ⚠
p.Gly56= Single submitter
p.His81Asn Single submitter ⚠
p.Leu33Val Single submitter ⚠
p.Lys43Arg Single submitter ⚠
p.Lys8Arg Single submitter ⚠
p.Lys8Glu Single submitter ⚠
p.Met313Val Single submitter ⚠
p.Met63Thr Single submitter ⚠
p.Phe129Leu Single submitter ⚠
p.Pro116Ser Single submitter ⚠
p.Pro6Leu Single submitter ⚠
p.Ser3Thr Single submitter ⚠
p.Ser9Arg Single submitter ⚠
p.Thr225Ala Single submitter ⚠
p.Thr321Ile Single submitter ⚠
p.Thr349Met Single submitter ⚠
p.Val144Leu Single submitter ⚠
p.Val211Ile Single submitter ⚠
p.Val213Gly Single submitter
p.Val269Ile Single submitter ⚠
p.Val324Ile Single submitter ⚠
p.Val410Met Single submitter
p.Arg302Cys No assertion criteria ⚠