{{Rsnum
|rsid=41261344
|Gene=SCN5A
|Chromosome=3
|position=38575385
|Orientation=plus
|GMAF=0.01194
|Assembly=GRCh38
|GenomeBuild=38.1
|dbSNPBuild=141
|geno1=(C;C)
|geno2=(C;T)
|geno3=(T;T)
|Gene_s=SCN5A
}}{{omim
|id=600163
|rsnum=41261344
|variant=0023
}}

{{ClinVar
|rsid=41261344
|Reversed=0
|FwdREF=C
|FwdALT=T
|REF=C
|ALT=T
|RSPOS=38616876
|CHROM=3
|GMAF=0.0119
|dbSNPBuildID=127
|SSR=0
|SAO=1
|VP=0x050178000000150516110100
|GENEINFO=SCN5A:6331
|GENE_NAME=SCN5A
|GENE_ID=6331
|WGT=0
|VC=SNV
|CLNALLE=1
|CLNHGVS=NC_000003.11:g.38616876C>T
|CLNSRC=OMIM Allelic Variant
|CLNORIGIN=1
|CLNSRCID=600163.0023
|CLNSIG=255
|CLNCUI=CN029323
|CLNDBN=Brugada syndrome 1; Long QT syndrome 3, acquired, susceptibility to; not provided
|Disease=Brugada syndrome 1; Long QT syndrome 3; not provided
|CLNACC=RCV000009990.2; RCV000009991.2; RCV000058578.1
|Tags=PM;TPA;PMC;SLO;VLD;G5;HD;GNO;KGPhase1;KGPROD;OTHERKG;LSD;OM
|CAF=0.9881; 0.01194
|CLNDSDB=GeneReviews:MedGen:OMIM:Orphanet:SNOMED_CT; MedGen
|CLNDSDBID=NBK1517:CN029323:601144:130:418818005; C1838527
|COMMON=1
}}

{{PMID Auto
|PMID=16155
|Title=Cryptorchidism and abdominal pain.
}}

{{PMID Auto
|PMID=11823453
|Title=Genetic and biophysical basis of sudden unexplained nocturnal death syndrome (SUNDS), a disease allelic to Brugada syndrome.
}}

{{PMID Auto
|PMID=12639704
|Title=Nucleotide changes in the translated region of SCN5A from Japanese patients with Brugada syndrome and control subjects.
}}

{{PMID Auto
|PMID=15121794
|Title=The common SCN5A mutation R1193Q causes LQTS-type electrophysiological alterations of the cardiac sodium channel.
|OA=1
}}

{{PMID Auto
|PMID=15689442
|Title=R1193Q of SCN5A, a Brugada and long QT mutation, is a common polymorphism in Han Chinese.
|OA=1
}}

{{PMID Auto
|PMID=15851227
|Title=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
|gene=SCN5A
|aa_change=Arg1193Gln
|aa_change_short=R1193Q
|impact=pathogenic
|qualified_impact=Moderate clinical importance, Uncertain pathogenic
|inheritance=dominant
|quality_scores=Array
|dbsnp_id=rs41261344
|overall_frequency_n=1
|overall_frequency_d=128
|overall_frequency=0.0078125
|n_genomes=1
|n_genomes_annotated=0
|n_haplomes=1
|n_articles=4
|n_articles_annotated=4
|qualityscore_in_silico=2
|qualitycomment_in_silico=Y
|qualityscore_case_control=0
|qualitycomment_case_control=Y
|qualityscore_familial=0
|qualitycomment_familial=Y
|qualityscore_severity=4
|qualitycomment_severity=Y
|qualityscore_treatability=3
|gene_in_genetests=Y
|in_omim=Y
|genetests_testable=Y
|genetests_reviewed=Y
|nblosum100=0
|autoscore=5
|webscore=N
|n_web_uneval=10
|variant_evidence=1
|clinical_importance=0
|summary_short=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.
}}

{{on chip | 23andMe v2}}
{{on chip | 23andMe v3}}
{{on chip | 23andMe v4}}