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Congenital hypotonia, epilepsy, developmental delay, and digital anomalies

ATN1 · rs967375653

Where this position leads

Condition: Epilepsy

rs967375653 Condition: Epilepsy Epilepsy Condition rs967375653 rs967375653 ATN1

Strength of the evidence

1 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 0 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 Likely pathogenic for Congenital hypotonia, epilepsy, developmental delay, and digital anomalies; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2021-03-13. ClinVar record 1027367 NM_001940.4(ATN1):c.3167A>C (p.His1056Pro)

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 likely disease-causing for Congenital hypotonia, epilepsy, developmental delay, and digital anomalies. This is the usual result. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV001027367, no assertion criteria provided)
A/C One copy of the version ClinVar lists as likely disease-causing for Congenital hypotonia, epilepsy, developmental delay, and digital anomalies. 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. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV001027367, no assertion criteria provided)
C/C Two copies of the version ClinVar lists as likely disease-causing for Congenital hypotonia, epilepsy, developmental delay, and digital anomalies. 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. This call was sent to ClinVar without the lab's criteria, the least certain kind of record, so it may change. (ClinVar VCV001027367, no assertion criteria provided)

Source: ClinVar VCV001027367, no assertion criteria provided

Questions about rs967375653

What is rs967375653?

rs967375653 is a single position in the genome, in or near the ATN1 gene. Published research associates it with congenital hypotonia, epilepsy, developmental delay, and digital anomalies. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs967375653 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 rs967375653 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 rs967375653 come from?

ClinVar VCV001027367, no assertion criteria provided. 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

Congenital hypotonia, epilepsy, developmental delay, and digital anomalies (rs967375653). MyGeneLog™. https://www.mygenelog.com/variants/rs967375653

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