Sugi Variant

Sugi Variant/PFAS

PFAS — 191 ClinVar variants

All ClinVar germline PFAS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 168 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 4 Benign · 9 Likely benign · 175 Uncertain significance

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

⚑ Evidence disagreements 168

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 vs ClinVar 2

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors lean, ClinVar uncertain 131

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

Predictors split 35

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

All PFAS variants

Pathogenic 1

  • c.681-1G>A Single submitter Phosphoribosylformylglycineamidine synthase deficiency

Likely pathogenic 2

  • p.Arg811Trp Single submitter Phosphoribosylformylglycineamidine synthase deficiency ⚠
  • p.Asn264Lys Single submitter Phosphoribosylformylglycineamidine synthase deficiency ⚠

Benign 4

Likely benign 9

Uncertain significance 175