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Severe myoclonic epilepsy in infancy

SCN1A · rs397514458

Where this position leads

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

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 Conflicting classifications of pathogenicity for Early-infantile DEE; criteria provided, conflicting classifications (1 of 4 stars, 2 submitters), last evaluated 2024-02-28. ClinVar record 839935 NM_001165963.4(SCN1A):c.5006C>T (p.Ala1669Val)

Classification Pathogenic for Severe myoclonic epilepsy in infancy, Early-infantile DEE; criteria provided, single submitter (1 of 4 stars, 2 submitters), last evaluated 2022-03-03. ClinVar record 29883 NM_001165963.4(SCN1A):c.5006C>A (p.Ala1669Glu)

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

G/G No copy of the version ClinVar lists as disease-causing for Severe myoclonic epilepsy in infancy. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000029883, criteria provided, single submitter)

G/T One copy of the version ClinVar lists as disease-causing for Severe myoclonic epilepsy in infancy. 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. So far only one lab has made this call, so it may change. (ClinVar VCV000029883, criteria provided, single submitter)

T/T Two copies of the version ClinVar lists as disease-causing for Severe myoclonic epilepsy in infancy. 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. So far only one lab has made this call, so it may change. (ClinVar VCV000029883, criteria provided, single submitter)

Source: ClinVar VCV000029883, criteria provided, single submitter

Questions about rs397514458

What is rs397514458?

rs397514458 is a single position in the genome, in or near the SCN1A gene. Published research associates it with severe myoclonic epilepsy in infancy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs397514458 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 rs397514458 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 rs397514458 come from?

ClinVar VCV000029883, criteria provided, single submitter. 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.

Severe myoclonic epilepsy in infancy (rs397514458). MyGeneLog™. https://www.mygenelog.com/variants/rs397514458

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