Myoclonus, familial, 2: genes and variants
Explore variant evidence for Myoclonus, familial, 2 across 1 analyzed protein (SCN8A). Linked ClinVar records include 3 pathogenic or likely pathogenic variants, 9 variants of uncertain significance and 3 with conflicting classifications.
Coverage includes proteins already analyzed in CATVariant, not every gene involved in this condition. Database links are associations, not an assessment of clinical gene–disease validity. Computable evidence prioritizes variants for expert review and does not reclassify them. Counts refer to the selected disease label.
Data updated 2026-10-10. Automated aggregation, not a clinical review date.
Download variant evidence (CSV)
Genes linked to Myoclonus, familial, 2
SCN8A: Sodium channel protein type 8 subunit alpha
The protein forms Nav1.6, a voltage-gated sodium channel that sets the threshold and propagation of neuronal action potentials. It is widely important for neuronal excitability, and SCN8A variants are associated with developmental and epileptic encephalopathies.
3 ClinVar pathogenic / likely pathogenic and 12 uncertain variants in SCN8A have source records linked to Myoclonus, familial, 2. Association strength is not clinical gene validity.
ClinVar pathogenic and likely pathogenic variants linked to Myoclonus, familial, 2
| Variant | Position | Protein part | Clinical label |
|---|---|---|---|
| SCN8A S979N | 979 | II | Pathogenic / likely pathogenic (★) |
| SCN8A M1481K | 1481 | III | Pathogenic / likely pathogenic (★) |
| SCN8A P1719R | 1719 | IV | Pathogenic / likely pathogenic |
Same protein, different disease
- Early-infantile DEE also has ClinVar records linked to SCN8A variants; they fall mostly in different places as the Myoclonus, familial, 2 variants (90 pathogenic / likely pathogenic).
- Cognitive impairment with or without cerebellar ataxia also has ClinVar records linked to SCN8A variants; they fall mostly in different places as the Myoclonus, familial, 2 variants (22 pathogenic / likely pathogenic).
- Seizures, benign familial infantile, 3 also has ClinVar records linked to SCN8A variants; they fall mostly in different places as the Myoclonus, familial, 2 variants (12 pathogenic / likely pathogenic).
- Complex neurodevelopmental disorder also has ClinVar records linked to SCN8A variants; they fall mostly in different places as the Myoclonus, familial, 2 variants (8 pathogenic / likely pathogenic).
- Autosomal recessive inheritance also has ClinVar records linked to SCN8A variants; they fall mostly in different places as the Myoclonus, familial, 2 variants (3 pathogenic / likely pathogenic).
Diseases related to Myoclonus, familial, 2
- Early-infantile DEE, also linked to SCN8A
- Seizures, benign familial infantile, 3, also linked to SCN8A
- Amyotrophic lateral sclerosis, also linked to SCN8A
- Cardiac arrhythmia, also linked to SCN8A
- Complex neurodevelopmental disorder, also linked to SCN8A
- Cognitive impairment with or without cerebellar ataxia, also linked to SCN8A
- Epilepsy, also linked to SCN8A
- Infantile spasms, also linked to SCN8A
- Fetal akinesia deformation sequence, also linked to SCN8A
- Focal epilepsy, also linked to SCN8A
- Migraine, also linked to SCN8A
- Cerebellar ataxia, also linked to SCN8A
Frequently asked questions
Which genes have records linked to Myoclonus, familial, 2?
This view contains 1 analyzed proteins: SCN8A. Links come from clinical records and association databases. They do not imply that every listed gene is a validated cause, and missing genes may not yet be analyzed.
What do the clinical classifications mean?
Linked records include 3 pathogenic or likely pathogenic variants, 9 variants of uncertain significance and 3 with conflicting classifications. Labels summarize source records; multi-condition records may not make a separate assertion for this disease. Check the original record and review status.
Does the evidence score change a VUS classification?
No. 0 VUS or conflicting variants reach the likely-pathogenic points range on the computable criteria available here. This is a research prioritization signal, not a clinical classification. Patient, family and other required evidence may be missing.
Can I download the variant evidence?
Download the CSV for all 16 variants in the selected disease scope, including clinical labels, review status, evidence criteria, predictor scores, functional measurements and population frequency where available.
About this data
Variant–disease links come from ClinVar, Open Targets and UniProt, pooled from eligible public CATVariant analyses 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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