Sugi Variant

Sugi Variant/RRM1

RRM1 — 65 ClinVar variants

All ClinVar germline RRM1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 57 flagged for review →

1 Pathogenic · 1 Likely pathogenic · 2 Benign · 2 Likely benign · 59 Uncertain significance

Full RRM1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 57

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 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 19

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

All RRM1 variants

Pathogenic 1

  • p.Arg381Cys No assertion criteria progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 6 ⚠

Likely pathogenic 1

Benign 2

Likely benign 2

Uncertain significance 59