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Cardiomyopathy

TTN · rs33997263

Where this position leads

Strength of the evidence

There is no record yet to score this position by (a ClinVar disease classification or a genome-wide significant study). That is not the same as weak evidence.

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 Uncertain significance for Cardiovascular phenotype, Dilated cardiomyopathy 1G, Autosomal recessive limb-girdle muscular dystrophy type 2J; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 5 submitters), last evaluated 2021-08-25. ClinVar record 47660 NM_001267550.2(TTN):c.9571C>G (p.Gln3191Glu)

Classification Likely pathogenic for Cardiomyopathy; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2023-02-14. ClinVar record 2691138 NM_001267550.2(TTN):c.9571C>T (p.Gln3191Ter)

Classification Uncertain significance for Autosomal recessive limb-girdle muscular dystrophy type 2J, Dilated cardiomyopathy 1G; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2015-12-22. ClinVar record 238869 NM_001267550.2(TTN):c.9571C>A (p.Gln3191Lys)

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. So far only one lab has made this call, so it may change. (ClinVar VCV002691138, criteria provided, single submitter)

A/G 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 VCV002691138, criteria provided, single submitter)

G/G 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 VCV002691138, criteria provided, single submitter)

Source: ClinVar VCV002691138, criteria provided, single submitter

Questions about rs33997263

What is rs33997263?

rs33997263 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 rs33997263 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 rs33997263 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 rs33997263 come from?

ClinVar VCV002691138, 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

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.

Cardiomyopathy (rs33997263). MyGeneLog™. https://www.mygenelog.com/variants/rs33997263

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