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Cardiomyopathy

PRKAG2 · rs193922697

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 Likely benign for Lethal congenital glycogen storage disease of heart, Cardiomyopathy; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 2 submitters), last evaluated 2024-07-29. ClinVar record 2732758 NM_016203.4(PRKAG2):c.879C>T (p.Phe293=)

Classification Pathogenic/Likely pathogenic for Cardiomyopathy, Hypertrophic cardiomyopathy, Lethal congenital glycogen storage disease of heart; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2020-01-15. ClinVar record 36698 NM_016203.4(PRKAG2):c.879C>A (p.Phe293Leu)

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

G/G No copy of the version ClinVar lists as disease-causing or likely disease-causing for Cardiomyopathy. This is the usual result. (ClinVar VCV000036698, criteria provided, multiple submitters, no conflicts)

G/T One copy of the version ClinVar lists as disease-causing or 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 VCV000036698, criteria provided, multiple submitters, no conflicts)

T/T Two copies of the version ClinVar lists as disease-causing or 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 VCV000036698, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000036698, criteria provided, multiple submitters, no conflicts

Questions about rs193922697

What is rs193922697?

rs193922697 is a single position in the genome, in or near the PRKAG2 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 rs193922697 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 rs193922697 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 rs193922697 come from?

ClinVar VCV000036698, 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

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Cardiomyopathy (rs193922697). MyGeneLog™. https://www.mygenelog.com/variants/rs193922697

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