rs41261344
| Orientation | plus |
| Stabilized | plus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1 | Probably benign; previously, thought to confer possible susceptibility to long QT syndrome |
| (T;T) | 1 | Probably benign; previously thought to confer possible susceptibility to long QT syndrome |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38575385 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs41261344 |
| dbSNP (classic) | rs41261344 |
| ClinGen | rs41261344 |
| ebi | rs41261344 |
| HLI | rs41261344 |
| Exac | rs41261344 |
| Gnomad | rs41261344 |
| Varsome | rs41261344 |
| LitVar | rs41261344 |
| Map | rs41261344 |
| PheGenI | rs41261344 |
| Biobank | rs41261344 |
| 1000 genomes | rs41261344 |
| hgdp | rs41261344 |
| ensembl | rs41261344 |
| geneview | rs41261344 |
| scholar | rs41261344 |
| rs41261344 | |
| pharmgkb | rs41261344 |
| gwascentral | rs41261344 |
| openSNP | rs41261344 |
| 23andMe | rs41261344 |
| SNPshot | rs41261344 |
| SNPdbe | rs41261344 |
| MSV3d | rs41261344 |
| GWAS Ctlg | rs41261344 |
| GMAF | 0.01194 |
| Max Magnitude | 1 |
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.[PMID 23788249
]
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.[PMID 30984031]
| ClinVar | |
|---|---|
| Risk | Rs41261344(T;T) |
| Alt | Rs41261344(T;T) |
| Reference | Rs41261344(C;C) |
| Significance | Other |
| Disease | Brugada syndrome 1 Long qt syndrome 3 not provided not specified Primary familial hypertrophic cardiomyopathy Brugada syndrome Cardiovascular phenotype |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Brugada syndrome 1 Long qt syndrome 3, acquired, susceptibility to not provided not specified Primary familial hypertrophic cardiomyopathy Brugada syndrome Cardiovascular phenotype |
| Reversed | 0 |
| HGVS | NC_000003.11:g.38616876C>T |
| CLNSRC | OMIM Allelic Variant |
| CLNACC | RCV000009990.5, RCV000009991.4, RCV000058578.6, RCV000154828.2, RCV000157488.1, RCV000171819.5, RCV000252422.1, |
[PMID 16155] Cryptorchidism and abdominal pain.
[PMID 11823453] Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
[PMID 12639704] Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects.
[PMID 15121794] The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel.
[PMID 15689442] R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese.
[PMID 15851227] Spectrum and prevalence of cardiac sodium channel variants among black, white, Asian, and Hispanic individuals: implications for arrhythmogenic susceptibility and Brugada/long QT syndrome genetic testing.
