ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.3937_3938del (p.Leu1313fs)

dbSNP: rs1575728590
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001008773 SCV001168562 likely pathogenic not provided 2020-12-08 criteria provided, single submitter clinical testing Identified in a patient with Brugada syndrome in published literature (Millat et al., 2009); Not observed in large population cohorts (Lek et al., 2016); 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: 19026623, 30662450)

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