ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.1428_1431del (p.Ser476fs)

dbSNP: rs794728906
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000183145 SCV000235561 likely pathogenic not provided 2024-03-13 criteria provided, single submitter clinical testing Identified in patients with Brugada syndrome in published literature (PMID: 30662450, 20129283); Not observed at significant frequency in large population cohorts (gnomAD); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; This variant is associated with the following publications: (PMID: 30662450, 20129283)
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute RCV000627161 SCV000748013 pathogenic Brugada syndrome 2017-07-27 criteria provided, single submitter clinical testing

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