Sugi Variant

Sugi Variant/RNF216

RNF216 — 431 ClinVar variants

All ClinVar germline RNF216 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 214 flagged for review →

15 Pathogenic · 1 Pathogenic/Likely pathogenic · 10 Likely pathogenic · 7 Conflicting · 6 Benign · 13 Benign/Likely benign · 149 Likely benign · 230 Uncertain significance

Full RNF216 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 214

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 agree, ClinVar conflicts 5

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

Predictors lean, ClinVar uncertain 149

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

Predictors split 60

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

All RNF216 variants

Pathogenic 15

  • c.202-1G>C Single submitter cerebellar ataxia-hypogonadism syndrome
  • p.Arg517Ter Single submitter
  • p.Arg686Ter Single submitter
  • p.Arg717Cys Single submitter cerebellar ataxia-hypogonadism syndrome
  • p.Gln331Ter Single submitter cerebellar ataxia-hypogonadism syndrome
  • p.Gln536Ter Single submitter
  • p.Glu310fs Single submitter
  • p.Glu561Ter Single submitter
  • p.Glu578fs Single submitter cerebellar ataxia-hypogonadism syndrome
  • p.Leu528fs Single submitter
  • p.Trp329Ter Single submitter cerebellar ataxia-hypogonadism syndrome
  • p.Cys597Ter No assertion criteria cerebellar ataxia-hypogonadism syndrome
  • p.Gln302Ter No assertion criteria cerebellar ataxia-hypogonadism syndrome
  • p.Glu205fs No assertion criteria cerebellar ataxia-hypogonadism syndrome
  • p.Gly456Glu No assertion criteria cerebellar ataxia-hypogonadism syndrome

Pathogenic/Likely pathogenic 1

  • p.Trp229Ter Multiple submitters cerebellar ataxia-hypogonadism syndrome

Likely pathogenic 10

Conflicting classifications of pathogenicity 7

Benign 6

Benign/Likely benign 13

Likely benign 149

Uncertain significance 230