Sugi Variant

Sugi Variant/IMPDH2

IMPDH2 — 85 ClinVar variants

All ClinVar germline IMPDH2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 60 flagged for review →

4 Likely pathogenic · 1 Conflicting · 1 Benign · 1 Benign/Likely benign · 7 Likely benign · 71 Uncertain significance

Full IMPDH2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 60

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 37

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

Predictors split 21

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

All IMPDH2 variants

Likely pathogenic 4

Conflicting classifications of pathogenicity 1

  • p.Asn198Ser Single submitter IMPDH2-related neurodevelopmental condition ⚠

Benign 1

  • c.819+10T>C Multiple submitters IMPDH2-related disorder

Benign/Likely benign 1

  • c.99-4G>A Multiple submitters IMPDH2-related disorder

Likely benign 7

Uncertain significance 71