Sugi Variant

Sugi Variant/CACNA1G

CACNA1G — 1616 ClinVar variants

All ClinVar germline CACNA1G variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 778 flagged for review →

2 Pathogenic · 1 Pathogenic/Likely pathogenic · 25 Likely pathogenic · 97 Conflicting · 79 Benign · 87 Benign/Likely benign · 472 Likely benign · 853 Uncertain significance

Full CACNA1G gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 778

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 70

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

Predictors lean, ClinVar uncertain 520

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 520

Predictors split 188

The independent predictors disagree with each other — read with care. · showing the 150 best-reviewed of 188

All CACNA1G variants

Pathogenic 2

  • p.Ala961Thr Multiple submitters spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits
  • p.Met1531Val Multiple submitters spinocerebellar ataxia 42, early-onset, severe, with neurodevelopmental deficits

Pathogenic/Likely pathogenic 1

  • p.Arg1715His Multiple submitters Autosomal dominant CACNA1G-related disorders

Likely pathogenic 25

Conflicting classifications of pathogenicity 97

Benign 79

Benign/Likely benign 87

Likely benign 472

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

Uncertain significance 853

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