ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.4842_4844delinsGTA (p.Tyr1614_Phe1615delinsTer) (rs863224533)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000195716 SCV000253979 pathogenic Brugada syndrome 2015-01-20 criteria provided, single submitter clinical testing This sequence change deletes 3 nucleotides and inserts 3 nucleotides in exon 28 of the SCN5A mRNA (c.4845_4847delCTCinsGTA), creating a premature translational stop signal at codon 1615 (p.Tyr1615*). It is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating mutations in SCN5A are known to be pathogenic (PMID: 19251209). Furthermore, another truncation variant at this position has been reported in an individual affected with Brugada syndrome (PMID: 20129283). For these reasons, this variant has been classified as Pathogenic.

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