Standard

Cardiomyopathy

TTN · rs2046607104

Where this position leads

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 Cardiomyopathy; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-01-11. ClinVar record 915629 NM_001267550.2(TTN):c.69225T>A (p.Tyr23075Ter)

Classification Likely benign for Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-10-08. ClinVar record 2126776 NM_001267550.2(TTN):c.69225T>C (p.Tyr23075=)

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 Cardiomyopathy. This is the usual result. So far only one lab has made this call, so it may change. (ClinVar VCV000915629, criteria provided, single submitter)

A/T One copy of the version ClinVar lists as likely disease-causing for Cardiomyopathy. 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 VCV000915629, criteria provided, single submitter)

T/T Two copies of the version ClinVar lists as likely disease-causing for Cardiomyopathy. 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 VCV000915629, criteria provided, single submitter)

Source: ClinVar VCV000915629, criteria provided, single submitter

Questions about rs2046607104

What is rs2046607104?

rs2046607104 is a single position in the genome, in or near the TTN gene. Published research associates it with cardiomyopathy. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs2046607104 linked to?

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

Does having rs2046607104 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 rs2046607104 come from?

ClinVar VCV000915629, 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

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Cardiomyopathy (rs2046607104). MyGeneLog™. https://www.mygenelog.com/variants/rs2046607104

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