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Cardiomyopathy

TTN · rs2154172475

Where this position leads

Condition: Cardiomyopathy

rs2154172475 Condition: Cardiomyopathy Cardiomyopathy Condition rs2154172475 rs2154172475 TTN

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 Likely pathogenic for Cardiomyopathy, Cardiovascular phenotype; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2022-12-19. ClinVar record 1329186 NM_001267550.2(TTN):c.70420A>T (p.Lys23474Ter)

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 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. (ClinVar VCV001329186, criteria provided, multiple submitters, no conflicts)
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. (ClinVar VCV001329186, criteria provided, multiple submitters, no conflicts)
T/T No copy of the version ClinVar lists as likely disease-causing for Cardiomyopathy. This is the usual result. (ClinVar VCV001329186, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV001329186, criteria provided, multiple submitters, no conflicts

Questions about rs2154172475

What is rs2154172475?

rs2154172475 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 rs2154172475 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 rs2154172475 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 rs2154172475 come from?

ClinVar VCV001329186, 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

Cardiomyopathy (rs2154172475). MyGeneLog™. https://www.mygenelog.com/variants/rs2154172475

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