Sugi Variant

Sugi Variant/DHFR

DHFR — 200 ClinVar variants

All ClinVar germline DHFR variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 54 flagged for review →

2 Pathogenic · 3 Likely pathogenic · 14 Conflicting · 8 Benign · 17 Benign/Likely benign · 97 Likely benign · 59 Uncertain significance

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

⚑ Evidence disagreements 54

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 3

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

Predictors agree, ClinVar conflicts 4

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

Predictors lean, ClinVar uncertain 19

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

Predictors split 28

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

All DHFR variants

Pathogenic 2

  • p.Asp153Val No assertion criteria constitutional megaloblastic anemia with severe neurologic disease ⚠
  • p.Leu80Phe No assertion criteria constitutional megaloblastic anemia with severe neurologic disease ⚠

Likely pathogenic 3

  • c.-476C>G Multiple submitters hereditary neoplastic syndrome
  • p.Gly18Val No assertion criteria constitutional megaloblastic anemia with severe neurologic disease
  • p.Pro26Leu No assertion criteria constitutional megaloblastic anemia with severe neurologic disease ⚠

Conflicting classifications of pathogenicity 14

Benign 8

Benign/Likely benign 17

Likely benign 97

Uncertain significance 59