Sugi Variant

Sugi Variant/RFC1

RFC1 — 189 ClinVar variants

All ClinVar germline RFC1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 137 flagged for review →

4 Pathogenic · 1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 12 Benign · 21 Likely benign · 149 Uncertain significance

Full RFC1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 137

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 lean, ClinVar uncertain 110

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

Predictors split 27

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

All RFC1 variants

Pathogenic 4

  • c.2535+2T>C No assertion criteria cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • c.2690+1G>A No assertion criteria cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • p.Arg388Ter No assertion criteria cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • p.Asn192fs No assertion criteria cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Pathogenic/Likely pathogenic 1

  • p.Arg383Ter Multiple submitters cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Likely pathogenic 2

  • c.2111-1G>C Single submitter cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • p.Glu419fs Single submitter cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome

Benign 12

  • c.2808+36C>G Multiple submitters cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • c.331+25G>T Multiple submitters cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • c.4-26G>A Multiple submitters cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • p.Gln954Lys Multiple submitters
  • p.Glu691Asp Multiple submitters
  • p.Ile598Val Multiple submitters
  • p.Lys1121= Multiple submitters
  • p.Pro847= Multiple submitters cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • c.132+2923= No assertion criteria cerebellar ataxia with neuropathy and bilateral vestibular areflexia syndrome
  • c.209-6A>T No assertion criteria RFC1-related disorder
  • p.Lys346Arg No assertion criteria RFC1-related disorder
  • p.Ser836= No assertion criteria RFC1-related disorder

Likely benign 21

Uncertain significance 149