Sugi Variant

Sugi Variant/CPLX1

CPLX1 — 82 ClinVar variants

All ClinVar germline CPLX1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 39 flagged for review →

1 Pathogenic/Likely pathogenic · 2 Likely pathogenic · 1 Conflicting · 3 Benign · 1 Benign/Likely benign · 33 Likely benign · 41 Uncertain significance

Full CPLX1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 39

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 14

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 CPLX1 variants

Pathogenic/Likely pathogenic 1

  • p.Cys105Ter Multiple submitters developmental and epileptic encephalopathy, 63

Likely pathogenic 2

  • p.Glu108Ter Multiple submitters developmental and epileptic encephalopathy, 63
  • p.Asp23fs Single submitter developmental and epileptic encephalopathy, 63

Conflicting classifications of pathogenicity 1

  • p.Leu128Met Single submitter developmental and epileptic encephalopathy, 63 ⚠

Benign 3

  • c.32-112A>G Multiple submitters primary ciliary dyskinesia 18
  • c.32-5A>G Multiple submitters developmental and epileptic encephalopathy, 63
  • c.*3G>C Multiple submitters developmental and epileptic encephalopathy, 63

Benign/Likely benign 1

Likely benign 33

Uncertain significance 41