Sugi Variant

Sugi Variant/PPFIBP1

PPFIBP1 — 180 ClinVar variants

All ClinVar germline PPFIBP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 133 flagged for review →

11 Pathogenic · 4 Likely pathogenic · 1 Conflicting · 1 Benign · 22 Likely benign · 141 Uncertain significance

Full PPFIBP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 133

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 98

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

Predictors split 34

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

All PPFIBP1 variants

Pathogenic 11

  • c.1146+1G>A Single submitter neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
  • c.2158+2T>C Single submitter
  • p.Ala473fs Single submitter microcephaly
  • p.Arg135Ter Single submitter microcephaly
  • p.Arg805Ter Single submitter microcephaly
  • p.Arg877Ter Single submitter microcephaly
  • p.Gln434Ter Single submitter microcephaly
  • p.Gln490Ter Single submitter microcephaly
  • p.Glu456fs Single submitter microcephaly
  • p.Gly57fs Single submitter neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
  • p.Tyr885fs Single submitter microcephaly

Likely pathogenic 4

  • c.357+1del Single submitter neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
  • c.358-2_358-1delinsCC Single submitter neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
  • p.Glu201fs Single submitter neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities
  • p.Pro606fs Single submitter

Conflicting classifications of pathogenicity 1

  • p.Gly685Arg Single submitter neurodevelopmental disorder with seizures, microcephaly, and brain abnormalities ⚠

Benign 1

Likely benign 22

Uncertain significance 141