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Progressive myoclonic epilepsy

SCARB2 · rs2476318271

Where this position leads

Condition: Epilepsy

rs2476318271 Condition: Epilepsy Epilepsy Condition rs2476318271 rs2476318271 SCARB2

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 Progressive myoclonic epilepsy, Action myoclonus-renal failure syndrome; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2024-01-18. ClinVar record 2088984 NM_005506.4(SCARB2):c.88C>T (p.Gln30Ter)

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 or likely disease-causing for Progressive myoclonic 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 VCV002088984, criteria provided, multiple submitters, no conflicts)
A/G One copy of the version ClinVar lists as disease-causing or likely disease-causing for Progressive myoclonic 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 VCV002088984, criteria provided, multiple submitters, no conflicts)
G/G No copy of the version ClinVar lists as disease-causing or likely disease-causing for Progressive myoclonic epilepsy. This is the usual result. (ClinVar VCV002088984, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV002088984, criteria provided, multiple submitters, no conflicts

Questions about rs2476318271

What is rs2476318271?

rs2476318271 is a single position in the genome, in or near the SCARB2 gene. Published research associates it with progressive myoclonic 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 rs2476318271 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 rs2476318271 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 rs2476318271 come from?

ClinVar VCV002088984, 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

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

Progressive myoclonic epilepsy (rs2476318271). MyGeneLog™. https://www.mygenelog.com/variants/rs2476318271

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