rs45620037
| Orientation | minus |
| Stabilized | minus |
| Geno | Mag | Summary |
|---|---|---|
| (C;C) | 0 | common in clinvar |
| (C;T) | 1 | Now: Probably benign. Formerly: increased risk for dilated cardiomyopathy |
| (T;T) | 1 | Now: Probably benign. Formerly: increased risk for dilated cardiomyopathy |
| Reference | GRCh38 38.1/141 |
| Chromosome | 3 |
| Position | 38613787 |
| Gene | SCN5A |
| is a | snp |
| is | mentioned by |
| dbSNP | rs45620037 |
| dbSNP (classic) | rs45620037 |
| ClinGen | rs45620037 |
| ebi | rs45620037 |
| HLI | rs45620037 |
| Exac | rs45620037 |
| Gnomad | rs45620037 |
| Varsome | rs45620037 |
| LitVar | rs45620037 |
| Map | rs45620037 |
| PheGenI | rs45620037 |
| Biobank | rs45620037 |
| 1000 genomes | rs45620037 |
| hgdp | rs45620037 |
| ensembl | rs45620037 |
| geneview | rs45620037 |
| scholar | rs45620037 |
| rs45620037 | |
| pharmgkb | rs45620037 |
| gwascentral | rs45620037 |
| openSNP | rs45620037 |
| 23andMe | rs45620037 |
| SNPshot | rs45620037 |
| SNPdbe | rs45620037 |
| MSV3d | rs45620037 |
| GWAS Ctlg | rs45620037 |
| GMAF | 0.0004591 |
| Max Magnitude | 1 |
rs45620037, also known as Thr220Ile or T220I, is a SNP in the cardiac sodium channel SCN5A gene.
Individuals with a copy of the rs45620037(T) allele are considered at higher risk for dilated cardiomyopathy; see OMIM for discussion of one such patient.
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
]
Update as of 2015/2016: The classification in ClinVar has changed, and this variant is now considered either benign or of unclear significance.
| ClinVar | |
|---|---|
| Risk | Rs45620037(T;T) |
| Alt | Rs45620037(T;T) |
| Reference | Rs45620037(C;C) |
| Significance | Other |
| Disease | Sick sinus syndrome 1 Brugada syndrome Nodal rhythm not specified Cardiovascular phenotype Dilated cardiomyopathy 1E |
| Variation | info |
| Gene | SCN5A |
| CLNDBN | Sick sinus syndrome 1, autosomal recessive Brugada syndrome Nodal rhythm not specified Cardiovascular phenotype Dilated cardiomyopathy 1E |
| Reversed | 1 |
| HGVS | NC_000003.11:g.38655278G>A |
| CLNSRC | OMIM Allelic Variant UniProtKB (protein) |
| CLNACC | RCV000009998.4, RCV000058832.5, RCV000148857.1, RCV000151804.5, RCV000251727.1, RCV000258831.1, |
[PMID 19214780] In silico investigations on functional and haplotype tag SNPs associated with congenital long QT syndromes (LQTSs).
[PMID 14523039] Congenital sick sinus syndrome caused by recessive mutations in the cardiac sodium channel gene (SCN5A).
[PMID 15671429] Sodium channel mutations and susceptibility to heart failure and atrial fibrillation.
[PMID 20129283] An international compendium of mutations in the SCN5A-encoded cardiac sodium channel in patients referred for Brugada syndrome genetic testing.
[PMID 20448214] Mechanistic links between Na+ channel (SCN5A) mutations and impaired cardiac pacemaking in sick sinus syndrome.
[PMID 20539757] Multiple loss-of-function mechanisms contribute to SCN5A-related familial sick sinus syndrome.
