Sugi Variant

Sugi Variant/PIGS

PIGS — 132 ClinVar variants

All ClinVar germline PIGS variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 89 flagged for review →

8 Pathogenic · 5 Likely pathogenic · 1 Conflicting · 5 Benign · 2 Benign/Likely benign · 26 Likely benign · 85 Uncertain significance

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

⚑ Evidence disagreements 89

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 1

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

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 45

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

Predictors split 42

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

All PIGS variants

Pathogenic 8

  • p.Leu221fs Single submitter glycosylphosphatidylinositol biosynthesis defect 18
  • p.Trp245Ter Single submitter glycosylphosphatidylinositol biosynthesis defect 18
  • c.468+1G>C No assertion criteria glycosylphosphatidylinositol biosynthesis defect 18
  • p.Asp381_Val388dup No assertion criteria glycosylphosphatidylinositol biosynthesis defect 18
  • p.Gln58His No assertion criteria glycosylphosphatidylinositol biosynthesis defect 18 ⚠
  • p.Gly357Asp No assertion criteria glycosylphosphatidylinositol biosynthesis defect 18
  • p.Pro329Arg No assertion criteria glycosylphosphatidylinositol biosynthesis defect 18
  • p.Thr439_Lys451delinsArgLeuLeu No assertion criteria glycosylphosphatidylinositol biosynthesis defect 18

Likely pathogenic 5

  • p.Ala332fs Single submitter glycosylphosphatidylinositol biosynthesis defect 18
  • p.Glu133fs Single submitter
  • p.Leu34Pro Single submitter glycosylphosphatidylinositol biosynthesis defect 18
  • p.Leu479Ter Single submitter glycosylphosphatidylinositol biosynthesis defect 18
  • p.Trp36Ter Single submitter glycosylphosphatidylinositol biosynthesis defect 18

Conflicting classifications of pathogenicity 1

  • p.Glu308Gly Single submitter glycosylphosphatidylinositol biosynthesis defect 18 ⚠

Benign 5

Benign/Likely benign 2

Likely benign 26

Uncertain significance 85