Sugi Variant

Sugi Variant/PHGDH

PHGDH — 881 ClinVar variants

All ClinVar germline PHGDH variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 284 flagged for review →

41 Pathogenic · 26 Pathogenic/Likely pathogenic · 29 Likely pathogenic · 25 Conflicting · 23 Benign · 8 Benign/Likely benign · 418 Likely benign · 311 Uncertain significance

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

⚑ Evidence disagreements 284

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 agree, ClinVar conflicts 12

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

Predictors lean, ClinVar uncertain 141

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

Predictors split 129

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

All PHGDH variants

Pathogenic 41

Pathogenic/Likely pathogenic 26

Likely pathogenic 29

Conflicting classifications of pathogenicity 25

Benign 23

Benign/Likely benign 8

Likely benign 418

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 311

Showing the top 300 by review status; the full set is in the sitemap.