Sugi Variant

Sugi Variant/CACNA1D

CACNA1D — 2564 ClinVar variants

All ClinVar germline CACNA1D variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 1114 flagged for review →

6 Pathogenic · 2 Pathogenic/Likely pathogenic · 12 Likely pathogenic · 55 Conflicting · 127 Benign · 27 Benign/Likely benign · 1067 Likely benign · 1268 Uncertain significance

Full CACNA1D gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 1114

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 19

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

Predicted LoF vs a conflicting call 2

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 770

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 770

Predictors split 323

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 323

All CACNA1D variants

Pathogenic 6

  • p.Gly403dup Multiple submitters sinoatrial node dysfunction and deafness
  • p.Arg1322Ter Single submitter Inborn genetic diseases
  • p.Arg619Pro Single submitter
  • p.Val259Asp Single submitter
  • c.2222-1G>A No assertion criteria aldosterone-producing adenoma with seizures and neurological abnormalities
  • p.Phe747Leu No assertion criteria congenital disorder of glycosylation, type Iw, autosomal dominant

Pathogenic/Likely pathogenic 2

  • p.Ser652Leu Multiple submitters
  • p.Ile750Met No assertion criteria aldosterone-producing adenoma with seizures and neurological abnormalities

Likely pathogenic 12

Conflicting classifications of pathogenicity 55

Benign 127

Benign/Likely benign 27

Likely benign 1067

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

Uncertain significance 1268

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