SCN1A · rs796053021
Where this position leads
Condition: Febrile Seizures
Strength of the evidence
ClinVar classifies it as disease-causing (or likely), reviewed at 2 of 4 stars.
4: ClinVar disease-causing, reviewed by an expert panel or a guideline (3–4 stars). 3: ClinVar, several labs agreeing (2 stars), or a genetic study at p ≤ 10−50. 2: ClinVar from one lab (1 star), or p ≤ 10−20. 1: ClinVar submitted without criteria (0 stars), or genome-wide significance (p ≤ 5×10−8). The higher of the two counts. It says how solid the evidence is, not whether it matters for a particular person.
What ClinVar records
Classification
Pathogenic/Likely pathogenic for Generalized epilepsy with febrile seizures plus, type 2, Inborn genetic diseases, Severe myoclonic epilepsy in infancy, Early-infantile DEE; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2024-09-05.
ClinVar record 206838 NM_001165963.4(SCN1A):c.4555C>A (p.Pro1519Thr)
Classification
Pathogenic for Early-infantile DEE; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-09-07.
ClinVar record 1066555 NM_001165963.4(SCN1A):c.4555C>T (p.Pro1519Ser)
Classification
Uncertain significance for Early-infantile DEE; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-08-09.
ClinVar record 1466998 NM_001165963.4(SCN1A):c.4555C>G (p.Pro1519Ala)
Change history MyGeneLog™ keeps a copy of every weekly release from 2026-10-19 and compares them. This position's classification has not changed since.
What this is ClinVar's aggregate record for this position (as of its 2026-10-19 release), not a result about you. A classification describes the variant against the condition named, as laboratories submitted it. Whether a person carries this variant, and what that would mean for them, is a question for a clinical test and a genetic counsellor.
Source: ClinVar VCV000206838, criteria provided, multiple submitters, no conflicts
rs796053021 is a single position in the genome, in or near the SCN1A gene. Published research associates it with generalized epilepsy with febrile seizures plus, type 2. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.
On MyGeneLog this position is linked to Febrile Seizures. The research behind each link, and its sources, are set out on that condition page.
No. Common variants like this one move a probability slightly and, on their own, rarely decide anything about one person. Nothing on this page is a diagnosis, and health decisions should be made with a clinician who can see your whole picture.
ClinVar VCV000206838, criteria provided, multiple submitters, no conflicts. Every variant on MyGeneLog comes from public primary sources and is published with its citation and the date it was checked.
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Generalized epilepsy with febrile seizures plus, type 2 (rs796053021). MyGeneLog™. https://www.mygenelog.com/variants/rs796053021