Standard

Cortical dysplasia, complex, with other brain malformations 9

CTNNA2 · rs778294237

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 Pathogenic for Cortical dysplasia, complex, with other brain malformations 9; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2018-11-05. ClinVar record 590261 NM_001282597.3(CTNNA2):c.1480C>T (p.Arg494Ter)

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

C/C No copy of the version ClinVar lists as disease-causing for Cortical dysplasia, complex, with other brain malformations 9. 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 VCV000590261, no assertion criteria provided)
C/T One copy of the version ClinVar lists as disease-causing for Cortical dysplasia, complex, with other brain malformations 9. 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 VCV000590261, no assertion criteria provided)
T/T Two copies of the version ClinVar lists as disease-causing for Cortical dysplasia, complex, with other brain malformations 9. 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 VCV000590261, no assertion criteria provided)

Source: ClinVar VCV000590261, no assertion criteria provided

Questions about rs778294237

What is rs778294237?

rs778294237 is a single position in the genome, in or near the CTNNA2 gene. Published research associates it with cortical dysplasia, complex, with other brain malformations 9. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs778294237 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 rs778294237 come from?

ClinVar VCV000590261, 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

Cortical dysplasia, complex, with other brain malformations 9 (rs778294237). MyGeneLog™. https://www.mygenelog.com/variants/rs778294237

← See all variants