Standard

Focal epilepsy

SCN1A · rs121917994

Where this position leads

Strength of the evidence

3 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 2 of 4 stars.

How this is scored

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 Focal epilepsy, Autism, Focal-onset seizure, Microcephaly, Generalized epilepsy with febrile seizures plus, type 2 and 2 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 6 submitters), last evaluated 2024-10-07. ClinVar record 68559 NM_001165963.4(SCN1A):c.4970G>A (p.Arg1657His)

Classification Likely pathogenic for Early-infantile DEE; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-04-06. ClinVar record 2718059 NM_001165963.4(SCN1A):c.4970G>T (p.Arg1657Leu)

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.

What each result means

C/C No copy of the version ClinVar lists as disease-causing or likely disease-causing for Focal epilepsy. This is the usual result. (ClinVar VCV000068559, criteria provided, multiple submitters, no conflicts)

C/T One copy of the version ClinVar lists as disease-causing or likely disease-causing for Focal epilepsy. Some conditions need only one copy; for others, one copy makes a person a carrier who is usually healthy but can pass it on. A genetic counsellor can say which applies. (ClinVar VCV000068559, criteria provided, multiple submitters, no conflicts)

T/T Two copies of the version ClinVar lists as disease-causing or likely disease-causing for Focal epilepsy. A result like this should be confirmed by a medical genetic test and talked through with a doctor; consumer DNA files can misread rare variants. (ClinVar VCV000068559, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000068559, criteria provided, multiple submitters, no conflicts

Questions about rs121917994

What is rs121917994?

rs121917994 is a single position in the genome, in or near the SCN1A gene. Published research associates it with focal epilepsy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs121917994 linked to?

On MyGeneLog this position is linked to Epilepsy. The research behind each link, and its sources, are set out on that condition page.

Does having rs121917994 mean I will get this?

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.

Where does the information about rs121917994 come from?

ClinVar VCV000068559, 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.

Quoting this page

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Focal epilepsy (rs121917994). MyGeneLog™. https://www.mygenelog.com/variants/rs121917994

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