Sugi Variant

Sugi Variant/CLP1

CLP1 — 129 ClinVar variants

All ClinVar germline CLP1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 69 flagged for review →

1 Pathogenic/Likely pathogenic · 3 Likely pathogenic · 2 Conflicting · 7 Benign · 1 Benign/Likely benign · 46 Likely benign · 69 Uncertain significance

Full CLP1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 69

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 45

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

Predictors split 24

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

All CLP1 variants

Pathogenic/Likely pathogenic 1

  • p.Arg140His Multiple submitters pontocerebellar hypoplasia type 10

Likely pathogenic 3

  • p.Arg116Ter Single submitter pontocerebellar hypoplasia type 10
  • p.Glu303Ter Single submitter pontocerebellar hypoplasia type 10
  • p.Met41fs Single submitter pontocerebellar hypoplasia type 10

Conflicting classifications of pathogenicity 2

  • p.Arg19Ter Single submitter pontocerebellar hypoplasia type 10
  • p.Arg300Cys Single submitter Inborn genetic diseases ⚠

Benign 7

Benign/Likely benign 1

Likely benign 46

Uncertain significance 69