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Severe myoclonic epilepsy in infancy

SCN1A · rs199727342

Stands on its own. Nothing else here links to this position yet — but the page above is the point: what the research found, what each genotype means, and where it came from, in language you can read. Links to conditions, drugs and the senses appear automatically if we write them.

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 Likely benign for Early-infantile DEE; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2026-01-06. ClinVar record 951192 NM_001165963.4(SCN1A):c.4906C>A (p.Arg1636=)

Classification Pathogenic for Severe myoclonic epilepsy in infancy, Generalized epilepsy with febrile seizures plus, type 2, Developmental and epileptic encephalopathy 6B, Early-infantile DEE; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 8 submitters), last evaluated 2022-12-02. ClinVar record 189870 NM_001165963.4(SCN1A):c.4906C>T (p.Arg1636Ter)

Classification Likely pathogenic for Early-infantile DEE; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-10-05. ClinVar record 2031256 NM_001165963.4(SCN1A):c.4906C>G (p.Arg1636Gly)

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 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. (ClinVar VCV000189870, criteria provided, multiple submitters, no conflicts)

A/G 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. (ClinVar VCV000189870, criteria provided, multiple submitters, no conflicts)

G/G No copy of the version ClinVar lists as disease-causing for Severe myoclonic epilepsy in infancy. This is the usual result. (ClinVar VCV000189870, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000189870, criteria provided, multiple submitters, no conflicts

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

Severe myoclonic epilepsy in infancy (rs199727342). MyGeneLog™. https://www.mygenelog.com/variants/rs199727342

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