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Keratoconus

COL4A1 · rs761712661

Where this position leads

Condition: Keratoconus

rs761712661 Condition: Keratoconus Keratoconus Condition rs761712661 rs761712661 COL4A1

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 Keratoconus; no assertion criteria provided (0 of 4 stars, 1 submitter), last evaluated 2023-08-27. ClinVar record 2577488 NM_001845.6(COL4A1):c.976G>A (p.Gly326Ser)

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 likely disease-causing for Keratoconus. 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 VCV002577488, no assertion criteria provided)
C/T One copy of the version ClinVar lists as likely disease-causing for Keratoconus. 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 VCV002577488, no assertion criteria provided)
T/T Two copies of the version ClinVar lists as likely disease-causing for Keratoconus. 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 VCV002577488, no assertion criteria provided)

Source: ClinVar VCV002577488, no assertion criteria provided

Questions about rs761712661

What is rs761712661?

rs761712661 is a single position in the genome, in or near the COL4A1 gene. Published research associates it with keratoconus. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs761712661 linked to?

On MyGeneLog this position is linked to Keratoconus. The research behind each link, and its sources, are set out on that condition page.

Does having rs761712661 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 rs761712661 come from?

ClinVar VCV002577488, 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

Free to quote and reuse under CC BY 4.0. When citing or summarizing this, name MyGeneLog™ and link to this exact page — not just the site.

Keratoconus (rs761712661). MyGeneLog™. https://www.mygenelog.com/variants/rs761712661

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