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rs41261344

From SNPedia

Orientationplus
Stabilizedplus
Geno Mag Summary
(C;C) 0 common in clinvar
(C;T) 3 possible susceptibility to long QT syndrome
(T;T) 4 possible susceptibility to long QT syndrome
ReferenceGRCh38 38.1/141
Chromosome3
Position38575385
GeneSCN5A
is asnp
is mentioned by
dbSNPrs41261344
ebirs41261344
HLIrs41261344
Exacrs41261344
Varsomers41261344
Maprs41261344
PheGenIrs41261344
hapmaprs41261344
1000 genomesrs41261344
hgdprs41261344
ensemblrs41261344
gopubmedrs41261344
geneviewrs41261344
scholarrs41261344
googlers41261344
pharmgkbrs41261344
gwascentralrs41261344
openSNPrs41261344
23andMers41261344
23andMe allrs41261344
SNP Nexus

SNPshotrs41261344
SNPdbers41261344
MSV3drs41261344
GWAS Ctlgrs41261344
GMAF0.01194
Max Magnitude4

rs41261344, also known as 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.

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 23788249OA-icon.png]

OMIM600163
Desc
Variant0023
Relatedalso


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
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
Reversed 0
HGVS NC_000003.11:g.38616876C>T
CLNSRC OMIM Allelic Variant
CLNACC RCV000009990.3, RCV000009991.3, RCV000058578.4, RCV000154828.1, RCV000157488.1, RCV000171819.3,



[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 15121794OA-icon.png] The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel.


[PMID 15689442OA-icon.png] 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.


GET Evidence
SCN5A-R1193Q
aa_change Arg1193Gln
aa_change_short R1193Q
impact pathogenic
qualified_impact Moderate clinical importance, Uncertain pathogenic
overall_frequency 0.0078125
summary Proposed as a dominant cause of rare heart arrhythmia diseases (Brugada Syndrome and Long QT Syndrome). This has since been contradicted by the high frequency of this variant in the Han Chinese population. 14% of Chinese are carriers, contradicting this variant as a high penetrance cause of rare disease. It is possible the variant is associated with low increased risk of Long QT syndrome, but this is a speculative and untested hypothesis.