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Retinal dystrophy

BEST1 · rs2134440586

Where this position leads

Condition: Retinal Dystrophy

rs2134440586 Condition: Retinal Dystrophy Retinal Dystrophy Condition rs2134440586 rs2134440586 BEST1

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 Retinal dystrophy, Vitelliform macular dystrophy 2; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2026-05-13. ClinVar record 1457853 NM_004183.4(BEST1):c.709A>T (p.Thr237Ser)

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 disease-causing or likely disease-causing for Retinal dystrophy. This is the usual result. (ClinVar VCV001457853, criteria provided, multiple submitters, no conflicts)
A/T One copy of the version ClinVar lists as disease-causing or likely disease-causing for Retinal dystrophy. 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 VCV001457853, criteria provided, multiple submitters, no conflicts)
T/T Two copies of the version ClinVar lists as disease-causing or likely disease-causing for Retinal dystrophy. 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 VCV001457853, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV001457853, criteria provided, multiple submitters, no conflicts

Questions about rs2134440586

What is rs2134440586?

rs2134440586 is a single position in the genome, in or near the BEST1 gene. Published research associates it with retinal dystrophy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2134440586 linked to?

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

Does having rs2134440586 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 rs2134440586 come from?

ClinVar VCV001457853, 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

Retinal dystrophy (rs2134440586). MyGeneLog™. https://www.mygenelog.com/variants/rs2134440586

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