ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.845G>A (p.Arg282His) (rs199473083)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000058851 SCV001226655 pathogenic Brugada syndrome 2019-10-17 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 282 of the SCN5A protein (p.Arg282His). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and histidine. This variant is present in population databases (rs199473083, ExAC 0.003%). This variant has been observed in individuals and families affected with Brugada syndrome (PMID: 11901046, 15828879, 28341781). ClinVar contains an entry for this variant (Variation ID: 68048). This variant has been reported to affect SCN5A protein function (PMID: 15828879, 16864729). For these reasons, this variant has been classified as Pathogenic.
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust RCV000058851 SCV000090371 not provided Brugada syndrome no assertion provided literature only This variant has been reported as associated with Brugada syndrome in the following publications (PMID:11901046;PMID:15828879;PMID:21840964). This is a literature report, and does not necessarily reflect the clinical interpretation of the Imperial College / Royal Brompton Cardiovascular Genetics laboratory.
GeneReviews RCV000144028 SCV000188921 pathogenic Brugada syndrome 1 2014-04-10 no assertion criteria provided literature only

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