Ventricular fibrillation, paroxysmal familial, type 1: genes and variants
Ventricular fibrillation, paroxysmal familial, type 1 is linked to 1 analyzed protein (SCN5A). 3 DNA variants are known to cause it; 15 more are uncertain, and 0 of those already look disease-causing on computable evidence.
Last updated 2026-09-30. Research information, not medical advice.
Genes linked to Ventricular fibrillation, paroxysmal familial, type 1
SCN5A: Sodium channel protein type 5 subunit alpha
Its rapid inward sodium current drives the upstroke of the cardiac action potential and enables fast electrical conduction through atrial, ventricular, and conduction-system tissue. Pathogenic variants can cause long-QT syndrome type 3, Brugada syndrome, conduction disease, and overlapping arrhythmia phenotypes.
3 disease-causing and 15 uncertain variants in SCN5A are linked to Ventricular fibrillation, paroxysmal familial, type 1.
Known disease-causing variants in Ventricular fibrillation, paroxysmal familial, type 1
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SCN5A R222Q | 222 | I | Disease-causing (★★) |
| SCN5A T1620M | 1620 | IV | Disease-causing (★★) |
| SCN5A S1710L | 1710 | IV | Disease-causing (★★) |
Same protein, different disease
- Brugada syndrome is also caused by SCN5A variants; they fall mostly in different places as the Ventricular fibrillation, paroxysmal familial, type 1 variants (24 disease-causing).
- Cardiac arrhythmia is also caused by SCN5A variants; they fall mostly in different places as the Ventricular fibrillation, paroxysmal familial, type 1 variants (17 disease-causing).
- Long QT syndrome is also caused by SCN5A variants; they fall mostly in different places as the Ventricular fibrillation, paroxysmal familial, type 1 variants (16 disease-causing).
- Dilated cardiomyopathy is also caused by SCN5A variants; they fall mostly in different places as the Ventricular fibrillation, paroxysmal familial, type 1 variants (4 disease-causing).
- Progressive familial heart block is also caused by SCN5A variants; they fall mostly in different places as the Ventricular fibrillation, paroxysmal familial, type 1 variants (4 disease-causing).
Diseases related to Ventricular fibrillation, paroxysmal familial, type 1
- Long QT syndrome, also linked to SCN5A
- Dilated cardiomyopathy, also linked to SCN5A
- Cardiac arrhythmia, also linked to SCN5A
- Primary dilated cardiomyopathy, also linked to SCN5A
- Brugada syndrome, also linked to SCN5A
- Epilepsy, also linked to SCN5A
- Atrial fibrillation, familial, 10, also linked to SCN5A
- Sick sinus syndrome 2, autosomal dominant, also linked to SCN5A
- Progressive familial heart block, also linked to SCN5A
- Sudden infant death syndrome, also linked to SCN5A
Frequently asked questions
Which genes are linked to Ventricular fibrillation, paroxysmal familial, type 1?
In CATVariant, Ventricular fibrillation, paroxysmal familial, type 1 is linked to 1 analyzed protein: SCN5A (Sodium channel protein type 5 subunit alpha).
How many genetic variants are linked to Ventricular fibrillation, paroxysmal familial, type 1?
19 variants: 3 are classified as disease-causing (pathogenic or likely pathogenic) in ClinVar and 15 are of uncertain significance or have conflicting reports.
Which uncertain variants in Ventricular fibrillation, paroxysmal familial, type 1 look disease-causing?
None of the uncertain variants currently reaches the likely-pathogenic range on computable evidence alone.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from the latest public CATVariant analysis of each human protein. Evidence scores use the ACMG/AMP Bayesian points scale with computable criteria only (position among known disease variants, rarity in gnomAD, calibrated predictors, deep mutational scanning); there is no family or patient data, so they prioritise variants for expert review and never classify them.
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