ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1100G>T (p.Arg367Leu)

dbSNP: rs28937318
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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 RCV004017376 SCV004849272 uncertain significance Cardiovascular phenotype 2017-04-07 criteria provided, single submitter clinical testing The c.1100G>T (p.R367L) alteration is located in exon 9 (coding exon 8) of the SCN5A gene. This alteration results from a G to T substitution at nucleotide position 1100, causing the arginine (R) at amino acid position 367 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Cardiovascular Biomedical Research Unit, Royal Brompton & Harefield NHS Foundation Trust RCV000058391 SCV000089911 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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