Sugi Variant

Sugi Variant/CACNA1C

CACNA1C — 3641 ClinVar variants

All ClinVar germline CACNA1C variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 6 flagged for review →

38 Pathogenic · 8 Pathogenic/Likely pathogenic · 52 Likely pathogenic · 279 Conflicting · 210 Benign · 153 Benign/Likely benign · 1455 Likely benign · 1446 Uncertain significance

Full CACNA1C gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 6

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predicted LoF vs a conflicting call 6

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.

All CACNA1C variants

Pathogenic 38

  • p.Arg1187Ter Multiple submitters neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Arg860Ter Multiple submitters long QT syndrome
  • p.Gly402Ser Multiple submitters long QT syndrome 8
  • p.Gly406Arg Multiple submitters long QT syndrome 8
  • p.Ile1166Thr Multiple submitters Inborn genetic diseases
  • c.4527-2A>G Single submitter
  • c.478-2A>G Single submitter
  • c.5091+1G>A Single submitter
  • p.Ala235fs Single submitter Cardiovascular phenotype
  • p.Arg1001Ter Single submitter
  • p.Arg1332Trp Single submitter
  • p.Arg161Ter Single submitter
  • p.Arg1666Ter Single submitter Cardiovascular phenotype
  • p.Arg1962Ter Single submitter Timothy syndrome
  • p.Arg998Ter Single submitter
  • p.Asp199Asn Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Asp446His Single submitter long QT syndrome
  • p.Gln1175fs Single submitter Cardiovascular phenotype
  • p.Gln1625Ter Single submitter
  • p.Gln1967fs Single submitter
  • p.Gly705Glu Single submitter
  • p.Ile134fs Single submitter
  • p.Ile1802fs Single submitter Cardiovascular phenotype
  • p.Leu1366fs Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Lys1205fs Single submitter
  • p.Pro857Arg Single submitter long QT syndrome
  • p.Ser1127fs Single submitter Cardiovascular phenotype
  • p.Thr133fs Single submitter Cardiovascular phenotype
  • p.Thr387fs Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Tyr1202Ter Single submitter
  • p.Tyr1861Ter Single submitter
  • p.Val618Gly Single submitter Timothy syndrome
  • p.Ala39Val No assertion criteria Brugada syndrome 3
  • p.Ala582Asp No assertion criteria long QT syndrome 8
  • p.Ile1475Met No assertion criteria long QT syndrome 8
  • p.Leu1408Val No assertion criteria neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Leu657Phe No assertion criteria neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Val1363Leu No assertion criteria Timothy syndrome

Pathogenic/Likely pathogenic 8

Likely pathogenic 52

  • p.Ala1473Gly Multiple submitters Timothy syndrome
  • p.Ala1473Pro Multiple submitters CACNA1C-related disorder
  • p.Arg1329Cys Multiple submitters Hypotonia
  • p.Arg860Gly Multiple submitters Cardiovascular phenotype
  • p.Asn537Asp Multiple submitters Cardiovascular phenotype
  • p.Lys773del Multiple submitters Cardiovascular phenotype
  • p.Val1363Met Multiple submitters CACNA1C-related disorder
  • p.Val241Ala Multiple submitters Brugada syndrome 3
  • c.2224+1G>C Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • c.2225-1G>A Single submitter CACNA1C-related disorder
  • c.2460+2T>G Single submitter CACNA1C-related disorder
  • c.2530+2T>C Single submitter CACNA1C-related disorder
  • c.2853+1G>T Single submitter
  • c.3717+1_3717+2insA Single submitter
  • c.3946-43del Single submitter CACNA1C-related disorder
  • c.4233-1G>A Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.658LF[1] Single submitter CACNA1C-related disorder
  • p.Ala818fs Single submitter Timothy syndrome
  • p.Arg1499fs Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Arg890Cys Single submitter
  • p.Asn259Tyr Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Gln255Arg Single submitter CACNA1C-related disorder
  • p.Gln255Ter Single submitter neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
  • p.Glu1115Gln Single submitter Brugada syndrome 3
  • p.Glu1416Lys Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Glu173Gln Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Gly1163Ser Single submitter Brugada syndrome 3
  • p.Gly402Asp Single submitter Timothy syndrome
  • p.Gly856Asp Single submitter Cardiovascular phenotype
  • p.Leu1289Trp Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Leu658Pro Single submitter intellectual disability
  • p.Leu917Arg Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Lys263Met Single submitter Timothy syndrome
  • p.Met265Lys Single submitter Brugada syndrome 3
  • p.Phe166Leu Single submitter Neurodevelopmental delay
  • p.Phe567Leu Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Pro11fs Single submitter cardiac conduction defect
  • p.Pro244Arg Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Pro613Arg Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Ser643Phe Single submitter Timothy syndrome
  • p.Ser710Leu Single submitter
  • p.Thr1168Asn Single submitter
  • p.Trp371Ter Single submitter Timothy syndrome
  • p.Trp506Ter Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Val257Ala Single submitter neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Val403Met Single submitter
  • p.Val993Leu Single submitter
  • p.Ala272Val No assertion criteria neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Arg518Ser No assertion criteria long QT syndrome
  • p.Glu411Asp No assertion criteria neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Lys1513Glu No assertion criteria neurodevelopmental disorder with hypotonia, language delay, and skeletal defects with or without seizures
  • p.Ser405Gly No assertion criteria Seizure

Conflicting classifications of pathogenicity 279

Benign 210

Benign/Likely benign 153

Likely benign 1455

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

Uncertain significance 1446

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