Sugi Variant

Sugi Variant/RARS1

RARS1 — 511 ClinVar variants

All ClinVar germline RARS1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 167 flagged for review →

18 Pathogenic · 6 Pathogenic/Likely pathogenic · 14 Likely pathogenic · 15 Conflicting · 83 Benign · 16 Benign/Likely benign · 175 Likely benign · 184 Uncertain significance

Full RARS1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 167

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 5

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

Predictors lean, ClinVar uncertain 126

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

Predictors split 35

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

All RARS1 variants

Pathogenic 18

Pathogenic/Likely pathogenic 6

  • c.1452+1G>A Multiple submitters leukodystrophy, hypomyelinating, 9
  • p.Arg512Gln Multiple submitters leukodystrophy, hypomyelinating, 9
  • p.Arg59Ter Multiple submitters
  • p.Asp2Gly Multiple submitters RARS-related disorders ⚠
  • p.Met1Thr Multiple submitters Inborn genetic diseases
  • p.Phe280fs Multiple submitters RARS-related disorders

Likely pathogenic 14

Conflicting classifications of pathogenicity 15

Benign 83

Benign/Likely benign 16

Likely benign 175

Uncertain significance 184