Sugi Variant

Sugi Variant/CACNB4

CACNB4 — 340 ClinVar variants

All ClinVar germline CACNB4 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 111 flagged for review →

1 Pathogenic · 2 Likely pathogenic · 17 Conflicting · 44 Benign · 21 Benign/Likely benign · 58 Likely benign · 197 Uncertain significance

Full CACNB4 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 111

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 8

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

Predictors lean, ClinVar uncertain 90

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

Predictors split 13

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

All CACNB4 variants

Pathogenic 1

  • p.Gln204fs No assertion criteria epilepsy, idiopathic generalized, susceptibility to, 9

Likely pathogenic 2

  • p.Ala81Thr Single submitter epilepsy, idiopathic generalized, susceptibility to, 9
  • p.Lys205Asn Single submitter spastic ataxia

Conflicting classifications of pathogenicity 17

  • c.64-238T>G Single submitter
  • c.*2188T>G Single submitter episodic ataxia type 5
  • c.*5022A>G Single submitter episodic ataxia type 5
  • c.*624A>T Single submitter episodic ataxia type 5
  • c.*737C>T Single submitter episodic ataxia type 5
  • p.Ala12= Single submitter idiopathic generalized epilepsy
  • p.Ala96= Single submitter idiopathic generalized epilepsy
  • p.Arg344Gln Single submitter idiopathic generalized epilepsy ⚠
  • p.Arg437Gln Single submitter episodic ataxia type 5 ⚠
  • p.Arg452Lys Single submitter idiopathic generalized epilepsy ⚠
  • p.Cys104Phe Single submitter idiopathic generalized epilepsy ⚠
  • p.Gln479= Single submitter idiopathic generalized epilepsy
  • p.Gly14Arg Single submitter idiopathic generalized epilepsy ⚠
  • p.Pro15Arg Single submitter epilepsy, idiopathic generalized, susceptibility to, 9 ⚠
  • p.Ser2Phe Single submitter episodic ataxia type 5 ⚠
  • p.Ser31Arg Single submitter idiopathic generalized epilepsy ⚠
  • p.Ser3Phe Single submitter episodic ataxia type 5 ⚠

Benign 44

Benign/Likely benign 21

  • c.1303-3T>C Multiple submitters idiopathic generalized epilepsy
  • c.268-16A>G Multiple submitters
  • c.599-15G>A Multiple submitters episodic ataxia type 5
  • c.*1656T>C Multiple submitters episodic ataxia type 5
  • c.*2391T>G Multiple submitters episodic ataxia type 5
  • c.*2729G>A Multiple submitters episodic ataxia type 5
  • c.*4771G>A Multiple submitters episodic ataxia type 5
  • c.*4T>C Multiple submitters episodic ataxia type 5
  • c.*6140G>T Multiple submitters episodic ataxia type 5
  • p.Ala397= Multiple submitters idiopathic generalized epilepsy
  • p.Arg471= Multiple submitters idiopathic generalized epilepsy
  • p.Arg74= Multiple submitters idiopathic generalized epilepsy
  • p.Asp108= Multiple submitters idiopathic generalized epilepsy
  • p.Leu345= Multiple submitters idiopathic generalized epilepsy
  • p.Leu413= Multiple submitters idiopathic generalized epilepsy
  • p.Met219Val Multiple submitters idiopathic generalized epilepsy
  • p.Pro15= Multiple submitters idiopathic generalized epilepsy
  • p.Pro18= Multiple submitters idiopathic generalized epilepsy
  • p.Ser264= Multiple submitters idiopathic generalized epilepsy
  • p.Ser62= Multiple submitters idiopathic generalized epilepsy
  • p.Thr257= Multiple submitters idiopathic generalized epilepsy

Likely benign 58

Uncertain significance 197