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Cardiomyopathy

DSG2 · rs943749481

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 Conflicting classifications of pathogenicity for Cardiomyopathy, Arrhythmogenic right ventricular dysplasia 10, Cardiovascular phenotype, Arrhythmogenic right ventricular cardiomyopathy; criteria provided, conflicting classifications (1 of 4 stars, 7 submitters), last evaluated 2025-04-09. ClinVar record 924280 NM_001943.5(DSG2):c.3224C>T (p.Thr1075Met)

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

C/C No copy of the version labs disagree about for Cardiomyopathy: in ClinVar, some labs call it disease-causing and others do not. This is the usual result. (ClinVar VCV000924280, criteria provided, conflicting classifications)

C/T One copy of the version labs disagree about for Cardiomyopathy: in ClinVar, some labs call it disease-causing and others do not, so what one copy means is not settled. A genetic counsellor can look at the separate records. (ClinVar VCV000924280, criteria provided, conflicting classifications)

T/T Two copies of the version labs disagree about for Cardiomyopathy: in ClinVar, some labs call it disease-causing and others do not. 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 VCV000924280, criteria provided, conflicting classifications)

Source: ClinVar VCV000924280, criteria provided, conflicting classifications

Questions about rs943749481

What is rs943749481?

rs943749481 is a single position in the genome, in or near the DSG2 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 rs943749481 linked to?

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

Does having rs943749481 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 rs943749481 come from?

ClinVar VCV000924280, criteria provided, conflicting classifications. 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 (rs943749481). MyGeneLog™. https://www.mygenelog.com/variants/rs943749481

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