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Developmental and epileptic encephalopathy

SCN1A · rs1553529527

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, Migraine, familial hemiplegic, 3, Severe myoclonic epilepsy in infancy, Developmental and epileptic encephalopathy 6B, Generalized epilepsy with febrile seizures plus, type 2; criteria provided, conflicting classifications (1 of 4 stars, 2 submitters), last evaluated 2023-12-06. ClinVar record 2002938 NM_001165963.4(SCN1A):c.3926T>C (p.Leu1309Pro)

Classification Pathogenic for Developmental and epileptic encephalopathy; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-09-01. ClinVar record 838026 NM_001165963.4(SCN1A):c.3926T>A (p.Leu1309His)

Classification Likely pathogenic; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2017-03-01. ClinVar record 444532 NM_001165963.4(SCN1A):c.3926T>G (p.Leu1309Arg)

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

A/A No copy of the version ClinVar lists as disease-causing for Developmental and epileptic encephalopathy. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000838026, criteria provided, single submitter)

A/T One copy of the version ClinVar lists as disease-causing for Developmental and epileptic encephalopathy. 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 VCV000838026, criteria provided, single submitter)

T/T Two copies of the version ClinVar lists as disease-causing for Developmental and epileptic encephalopathy. 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 VCV000838026, criteria provided, single submitter)

Source: ClinVar VCV000838026, criteria provided, single submitter

Questions about rs1553529527

What is rs1553529527?

rs1553529527 is a single position in the genome, in or near the SCN1A gene. Published research associates it with developmental and epileptic encephalopathy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs1553529527 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 rs1553529527 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 rs1553529527 come from?

ClinVar VCV000838026, 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

Licensed CC BY-NC 4.0: free to read, share and adapt for non-commercial use, naming MyGeneLog™ and linking the exact page. Commercial use, including training or serving a commercial AI system, needs a licence — https://www.mygenelog.com/license

Developmental and epileptic encephalopathy (rs1553529527). MyGeneLog™. https://www.mygenelog.com/variants/rs1553529527

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