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Sick sinus syndrome 1

SCN5A · rs752476527

Where this position leads

Condition: Sick Sinus Syndrome

rs752476527 Condition: Sick Sinus Syndrome Sick Sinus Syndrome Condition rs752476527 rs752476527 SCN5A

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 Hypertrophic cardiomyopathy, Cardiac arrhythmia; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 3 submitters), last evaluated 2023-11-30. ClinVar record 977174 NM_000335.5(SCN5A):c.5294T>C (p.Met1765Thr)

Classification Conflicting classifications of pathogenicity for Sick sinus syndrome 1, Long QT syndrome 3; criteria provided, conflicting classifications (1 of 4 stars, 4 submitters), last evaluated 2025-01-17. ClinVar record 201534 NM_000335.5(SCN5A):c.5294T>A (p.Met1765Lys)

Classification Uncertain significance; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-04-07. ClinVar record 1348070 NM_000335.5(SCN5A):c.5294T>G (p.Met1765Arg)

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 No copy of the version labs disagree about for Sick sinus syndrome 1: in ClinVar, some labs call it disease-causing and others do not. This is the usual result. (ClinVar VCV000201534, criteria provided, conflicting classifications)
A/T One copy of the version labs disagree about for Sick sinus syndrome 1: 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 VCV000201534, criteria provided, conflicting classifications)
T/T Two copies of the version labs disagree about for Sick sinus syndrome 1: 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 VCV000201534, criteria provided, conflicting classifications)

Source: ClinVar VCV000201534, criteria provided, conflicting classifications

Questions about rs752476527

What is rs752476527?

rs752476527 is a single position in the genome, in or near the SCN5A gene. Published research associates it with sick sinus syndrome 1. A single variant does not decide an outcome — it shifts a probability, and for most common variants the shift is small.

What conditions is rs752476527 linked to?

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

Does having rs752476527 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 rs752476527 come from?

ClinVar VCV000201534, 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

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

Sick sinus syndrome 1 (rs752476527). MyGeneLog™. https://www.mygenelog.com/variants/rs752476527

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