ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.4321G>C (p.Glu1441Gln) (rs199473249)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000246368 SCV000320667 likely pathogenic Cardiovascular phenotype 2015-11-18 criteria provided, single submitter clinical testing The p.E1441Q variant (also known as c.4321G>C), located in coding exon 24 of the SCN5A gene, results from a G to C substitution at nucleotide position 4321. The glutamic acid at codon 1441 is replaced by glutamine, an amino acid with some highly similar properties. This variant has been reported in an individual reported to have Brugada syndrome (KapplingerJD et al.Heart Rhythm.2010;7(1):33-46).This variant was previously reported in the SNPDatabase as rs199473249. <span style="background-color:rgb(255, 255, 255); color:rgb(51, 51, 51); font-family:sans-serif,arial,verdana,trebuchet ms; font-size:13px">This variant was not reported in population-based cohorts in the following databases: NHLBI Exome Sequencing Project (ESP), and 1000 Genomes Project. In the ESP, this variant was not observed in 6215samples (12430 alleles) with coverage at this position.This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis.Based on the majority of available evidence to date, this variant is likely to be pathogenic.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058661 SCV000090181 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:20129283). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.

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