Sugi Variant

Sugi Variant/CACNA2D1

CACNA2D1 — 1083 ClinVar variants

All ClinVar germline CACNA2D1 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 360 flagged for review →

3 Pathogenic · 1 Likely pathogenic · 35 Conflicting · 119 Benign · 24 Benign/Likely benign · 508 Likely benign · 393 Uncertain significance

Full CACNA2D1 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 360

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 18

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

Predicted LoF vs a conflicting call 1

ClinVar submitters conflict, and it's a predicted loss-of-function change in a gene where LoF causes disease — flagged for review, not resolved (verify NMD-escape for C-terminal truncations). Non-missense.

Predictors lean, ClinVar uncertain 239

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 239

Predictors split 102

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

All CACNA2D1 variants

Pathogenic 3

  • p.Gly209Asp No assertion criteria developmental and epileptic encephalopathy 110
  • p.Leu9fs No assertion criteria developmental and epileptic encephalopathy 110
  • p.Ser275fs No assertion criteria developmental and epileptic encephalopathy 110

Likely pathogenic 1

Conflicting classifications of pathogenicity 35

Benign 119

Benign/Likely benign 24

Likely benign 508

Showing the top 300 by review status; the full set is in the sitemap.

Uncertain significance 393

Showing the top 300 by review status; the full set is in the sitemap.