Sugi Variant

Sugi Variant/CACNA2D2

CACNA2D2 — 1203 ClinVar variants

All ClinVar germline CACNA2D2 variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 404 flagged for review →

48 Pathogenic · 2 Pathogenic/Likely pathogenic · 28 Likely pathogenic · 15 Conflicting · 44 Benign · 7 Benign/Likely benign · 612 Likely benign · 447 Uncertain significance

Full CACNA2D2 gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 404

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 vs ClinVar 1

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 7

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

Predictors lean, ClinVar uncertain 248

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 248

Predictors split 148

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

All CACNA2D2 variants

Pathogenic 48

  • c.1701+2T>C Single submitter cerebellar atrophy with seizures and variable developmental delay
  • c.1846-1G>A Single submitter
  • p.Ala286fs Single submitter developmental and epileptic encephalopathy
  • p.Ala442fs Single submitter early-infantile DEE
  • p.Arg277Ter Single submitter cerebellar atrophy with seizures and variable developmental delay
  • p.Arg761Ter Single submitter early-infantile DEE
  • p.Asn432_Tyr433insTer Single submitter early-infantile DEE
  • p.Asn652fs Single submitter early-infantile DEE
  • p.Asp139fs Single submitter early-infantile DEE
  • p.Asp291fs Single submitter early-infantile DEE
  • p.Asp614fs Single submitter cerebellar atrophy with seizures and variable developmental delay
  • p.Gln1012Ter Single submitter early-infantile DEE
  • p.Gln1075Ter Single submitter early-infantile DEE
  • p.Gln241Ter Single submitter early-infantile DEE
  • p.Gln463Ter Single submitter early-infantile DEE
  • p.Gln656Ter Single submitter cerebellar atrophy with seizures and variable developmental delay
  • p.Gln79fs Single submitter early-infantile DEE
  • p.Gln79Ter Single submitter early-infantile DEE
  • p.Glu376Ter Single submitter cerebellar atrophy with seizures and variable developmental delay
  • p.Gly728fs Single submitter early-infantile DEE
  • p.His1036fs Single submitter early-infantile DEE
  • p.His28fs Single submitter early-infantile DEE
  • p.His431fs Single submitter early-infantile DEE
  • p.His68fs Single submitter
  • p.His899fs Single submitter early-infantile DEE
  • p.Leu580fs Single submitter early-infantile DEE
  • p.Leu613fs Single submitter early-infantile DEE
  • p.Leu666fs Single submitter early-infantile DEE
  • p.Leu882fs Single submitter early-infantile DEE
  • p.Leu974fs Single submitter early-infantile DEE
  • p.Lys118fs Single submitter early-infantile DEE
  • p.Phe424fs Single submitter early-infantile DEE
  • p.Phe891fs Single submitter early-infantile DEE
  • p.Pro36fs Single submitter early-infantile DEE
  • p.Ser340fs Single submitter early-infantile DEE
  • p.Ser998fs Single submitter early-infantile DEE
  • p.Thr33fs Single submitter early-infantile DEE
  • p.Thr388fs Single submitter early-infantile DEE
  • p.Trp281Ter Single submitter early-infantile DEE
  • p.Tyr161_Tyr162insTer Single submitter early-infantile DEE
  • p.Tyr635Ter Single submitter early-infantile DEE
  • p.Val835fs Single submitter early-infantile DEE
  • p.Val884fs Single submitter early-infantile DEE
  • p.Asn432fs No assertion criteria cerebellar atrophy with seizures and variable developmental delay
  • p.Asp991Asn No assertion criteria cerebellar atrophy with seizures and variable developmental delay ⚠
  • p.Leu1040Pro No assertion criteria cerebellar atrophy with seizures and variable developmental delay
  • p.Leu1046Pro No assertion criteria cerebellar atrophy with seizures and variable developmental delay
  • p.Val1115fs No assertion criteria

Pathogenic/Likely pathogenic 2

  • p.Arg35fs Multiple submitters early-infantile DEE
  • p.Gln519Ter Multiple submitters cerebellar atrophy with seizures and variable developmental delay

Likely pathogenic 28

Conflicting classifications of pathogenicity 15

  • c.1908-5C>A Single submitter early-infantile DEE
  • c.1908-6C>G Single submitter early-infantile DEE
  • c.3099-9dup Single submitter cerebellar atrophy with seizures and variable developmental delay
  • c.406-7C>T Single submitter early-infantile DEE
  • p.Ala206Thr Single submitter developmental and epileptic encephalopathy ⚠
  • p.Arg1033= Single submitter early-infantile DEE
  • p.Arg6Pro Single submitter cerebellar atrophy with seizures and variable developmental delay ⚠
  • p.Arg828Cys Single submitter cerebellar atrophy with seizures and variable developmental delay ⚠
  • p.Gln1134His Single submitter early-infantile DEE ⚠
  • p.Gln934Arg Single submitter cerebellar atrophy with seizures and variable developmental delay ⚠
  • p.Leu1124Phe Single submitter cerebellar atrophy with seizures and variable developmental delay ⚠
  • p.Leu54Phe Single submitter early-infantile DEE ⚠
  • p.Pro999Ser Single submitter Inborn genetic diseases ⚠
  • p.Val131Met Single submitter cerebellar atrophy with seizures and variable developmental delay ⚠
  • p.Val160Met Single submitter early-infantile DEE ⚠

Benign 44

Benign/Likely benign 7

  • c.1261-5C>A Multiple submitters early-infantile DEE
  • p.Asn223= Multiple submitters cerebellar atrophy with seizures and variable developmental delay
  • p.Asn540= Multiple submitters early-infantile DEE
  • p.Asp409= Multiple submitters cerebellar atrophy with seizures and variable developmental delay
  • p.Glu464= Multiple submitters early-infantile DEE
  • p.Lys611= Multiple submitters cerebellar atrophy with seizures and variable developmental delay
  • p.Pro1133Leu Multiple submitters early-infantile DEE

Likely benign 612

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

Uncertain significance 447

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