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Standard

Ventricular tachycardia

KCNJ2 · rs199473373

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 for Ventricular tachycardia, Andersen Tawil syndrome, Short QT syndrome type 3, Supraventricular tachycardia, Cardiovascular phenotype and 2 more; criteria provided, multiple submitters, no conflicts (2 of 4 stars, 9 submitters), last evaluated 2026-01-04. ClinVar record 67568 NM_000891.3(KCNJ2):c.244C>T (p.Arg82Trp)

Classification Likely benign for Andersen Tawil syndrome, Short QT syndrome type 3; criteria provided, single submitter (1 of 4 stars, 1 submitter), last evaluated 2022-06-09. ClinVar record 2165589 NM_000891.3(KCNJ2):c.244C>A (p.Arg82=)

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 2026-11-09 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.

How common each version is

CT
Japanese ToMMo
C 100.0%

The share of all copies of this position that are each version. Source: the population studies published in dbSNP (US NCBI); each row names its study. No Korean figure for this position yet.

What each result means

C/C No copy of the version ClinVar lists as disease-causing for Ventricular tachycardia. This is the usual result. (ClinVar VCV000067568, criteria provided, multiple submitters, no conflicts)
C/T One copy of the version ClinVar lists as disease-causing for Ventricular tachycardia. 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 VCV000067568, criteria provided, multiple submitters, no conflicts)
T/T Two copies of the version ClinVar lists as disease-causing for Ventricular tachycardia. 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 VCV000067568, criteria provided, multiple submitters, no conflicts)

Source: ClinVar VCV000067568, criteria provided, multiple submitters, no conflicts

Quoting this page

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Ventricular tachycardia (rs199473373). MyGeneLog™. https://www.mygenelog.com/variants/rs199473373

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