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Corneal dystrophy, Meesmann, 2

KRT3 · rs2498757244

Strength of the evidence

2 / 4

ClinVar classifies it as disease-causing (or likely), reviewed at 1 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 Corneal dystrophy, Meesmann, 2; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2021-01-01. ClinVar record 2628033 NM_057088.3(KRT3):c.1527G>T (p.Glu509Asp)

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 likely disease-causing for Corneal dystrophy, Meesmann, 2. 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. So far only one lab has made this call, so it may change. (ClinVar VCV002628033, criteria provided, single submitter)
A/C One copy of the version ClinVar lists as likely disease-causing for Corneal dystrophy, Meesmann, 2. 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. So far only one lab has made this call, so it may change. (ClinVar VCV002628033, criteria provided, single submitter)
C/C No copy of the version ClinVar lists as likely disease-causing for Corneal dystrophy, Meesmann, 2. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV002628033, criteria provided, single submitter)

Source: ClinVar VCV002628033, criteria provided, single submitter

Questions about rs2498757244

What is rs2498757244?

rs2498757244 is a single position in the genome, in or near the KRT3 gene. Published research associates it with corneal dystrophy, meesmann, 2. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

Does having rs2498757244 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 rs2498757244 come from?

ClinVar VCV002628033, criteria provided, single submitter. 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

Corneal dystrophy, Meesmann, 2 (rs2498757244). MyGeneLog™. https://www.mygenelog.com/variants/rs2498757244

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