Sugi Variant

Sugi Variant/CWF19L1

CWF19L1 — 159 ClinVar variants

All ClinVar germline CWF19L1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 82 flagged for review →

12 Pathogenic · 3 Pathogenic/Likely pathogenic · 17 Likely pathogenic · 3 Conflicting · 6 Benign · 8 Benign/Likely benign · 22 Likely benign · 88 Uncertain significance

Full CWF19L1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 82

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 1

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

Predictors lean, ClinVar uncertain 62

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 CWF19L1 variants

Pathogenic 12

  • c.964+1G>A Multiple submitters CWF19L1-related disorder
  • c.1375-2A>G Single submitter autosomal recessive spinocerebellar ataxia 17
  • c.708+294_1044+1540del Single submitter autosomal recessive spinocerebellar ataxia 17
  • c.850-2A>G Single submitter
  • p.Arg204fs Single submitter
  • p.Arg208Ter Single submitter
  • p.Asp260fs Single submitter
  • p.Gln372Ter Single submitter autosomal recessive spinocerebellar ataxia 17
  • p.Gln458Ter Single submitter autosomal recessive spinocerebellar ataxia 17
  • p.Lys174Ter Single submitter autosomal recessive spinocerebellar ataxia 17
  • p.Gly357Val No assertion criteria autosomal recessive spinocerebellar ataxia 17 ⚠
  • p.Lys316Ter No assertion criteria autosomal recessive spinocerebellar ataxia 17

Pathogenic/Likely pathogenic 3

  • p.Lys387fs Multiple submitters autosomal recessive spinocerebellar ataxia 17
  • p.Pro156fs Multiple submitters autosomal recessive spinocerebellar ataxia 17
  • p.Tyr202Ter Multiple submitters CWF19L1-related disorder

Likely pathogenic 17

  • p.Asp13His Multiple submitters
  • p.Pro315fs Multiple submitters autosomal recessive spinocerebellar ataxia 17
  • c.1045-1G>A Single submitter CWF19L1-related disorder
  • c.1045-2A>C Single submitter autosomal recessive spinocerebellar ataxia 17
  • c.108+1G>A Single submitter CWF19L1-related disorder
  • c.187+1G>T Single submitter autosomal recessive spinocerebellar ataxia 17
  • c.708+1G>A Single submitter
  • p.Arg399Ter Single submitter autosomal recessive spinocerebellar ataxia 17
  • p.Asp434fs Single submitter autosomal recessive spinocerebellar ataxia 17
  • p.Gln461Ter Single submitter
  • p.Glu117Ter Single submitter autosomal recessive spinocerebellar ataxia 17
  • p.Ile151Ser Single submitter autosomal recessive spinocerebellar ataxia 17
  • p.Ser274fs Single submitter autosomal recessive spinocerebellar ataxia 17
  • p.Tyr192Ter Single submitter autosomal recessive spinocerebellar ataxia 17
  • p.Val229Phe Single submitter ⚠
  • p.Gln317Ter No assertion criteria intellectual disability
  • p.Glu384Ter No assertion criteria autosomal recessive spinocerebellar ataxia 17

Conflicting classifications of pathogenicity 3

  • p.Arg222Gln Single submitter autosomal recessive spinocerebellar ataxia 17 ⚠
  • p.Glu519del Single submitter CWF19L1-related disorder
  • p.Phe489fs Single submitter Inborn genetic diseases

Benign 6

Benign/Likely benign 8

Likely benign 22

Uncertain significance 88