rs41261344

A SNP in the SCN5A gene on chromosome 3. Its most notable genotype is C;T: Probably benign; previously, thought to confer possible susceptibility to long QT syndrome

Gene
SCN5A
Location
Chr 338,575,385 (GRCh38)
Highest magnitude
1.0Minor
Tested on
23andMe, AncestryDNA
Minor allele frequency
1%

Genotypes

As shown in 23andMe and AncestryDNA files.

  1. C;CGoodcommon in clinvarTypical · 0.0
  2. C;TMost notableBadProbably benign; previously, thought to confer possible susceptibility to long QT syndromeMinor · 1.0
  3. T;TBadProbably benign; previously thought to confer possible susceptibility to long QT syndromeMinor · 1.0

On SNPedia: (C;C), (C;T), (T;T). Magnitude rates how notable a genotype is from 0 to 10, not how risky it is.

Conditions, medicines and genes

Other SCN5A SNPs

All SCN5A SNPs

Notes

From SNPedia

Show notes, about 160 words

rs41261344, also known as c.3575G>A, Arg1193Gln or R1193Q, is a SNP in cardiac sodium channel SCN5A gene. It is unclear how penetrant (causative) the rare allele of this SNP is for cardiac issues such as long QT syndrome. It was thought to be causative, based on observations in Caucasians, but then a report came out stating that 14% of Han Chinese carry this variant, most without any apparent problem. See OMIM and the GetEvidence summary below on right for more discussion. Although now considered benign by ClinVar consensus, this variant meets the criteria published in 2013 by the ACMG regarding incidental findings in exome or genome sequencing, as a variant that they do recommend informing a patient about. A 2019 publication based on a Chinese patient reports that the R1193Q variant may predispose individuals to develop drug-induced Brugada syndrome when treated with propafenone.

C;T

see discussion at rs41261344

T;T

see discussion at rs41261344

Source and license

Adapted from rs41261344 on SNPedia, using a snapshot taken October 16, 2026. SNPedia content is shared under CC BY-NC-SA 3.0 US, and this page is shared under the same license.

SNPedia is a community-edited wiki. Its entries can be incomplete, out of date or wrong, and nothing here is a diagnosis or medical advice. Magnitude is a community rating of how interesting a genotype is, not a risk score.