Standard

Primary dilated cardiomyopathy

SCN5A · rs199473161

Where this position leads

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 Pathogenic/Likely pathogenic for Primary dilated cardiomyopathy, Sick sinus syndrome 1, Dilated cardiomyopathy 1E, Cardiovascular phenotype, SCN5A-related disorder; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 11 submitters), last evaluated 2025-12-22. ClinVar record 67731 NM_000335.5(SCN5A):c.2440C>T (p.Arg814Trp)

Classification Likely benign for Cardiac arrhythmia; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2018-10-22. ClinVar record 629832 NM_000335.5(SCN5A):c.2440C>A (p.Arg814=)

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 disease-causing or likely disease-causing for Primary dilated 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 VCV000067731, criteria provided, multiple submitters, no conflicts)

A/G One copy of the version ClinVar lists as disease-causing or likely disease-causing for Primary dilated 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 VCV000067731, criteria provided, multiple submitters, no conflicts)

G/G No copy of the version ClinVar lists as disease-causing or likely disease-causing for Primary dilated cardiomyopathy. This is the usual result. (ClinVar VCV000067731, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000067731, criteria provided, multiple submitters, no conflicts

Questions about rs199473161

What is rs199473161?

rs199473161 is a single position in the genome, in or near the SCN5A gene. Published research associates it with primary dilated 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 rs199473161 linked to?

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

Does having rs199473161 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 rs199473161 come from?

ClinVar VCV000067731, 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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Primary dilated cardiomyopathy (rs199473161). MyGeneLog™. https://www.mygenelog.com/variants/rs199473161

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