ClinVar Miner

Submissions for variant NM_198056.2(SCN5A):c.5428G>T (p.Glu1810Ter) (rs1060501145)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458925 SCV000545076 pathogenic Brugada syndrome 2016-04-25 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the last exon of the SCN5A mRNA at codon 1810 (p.Glu1810*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated SCN5A protein. Truncating variants in SCN5A are known to be pathogenic (PMID: 20129283, 22789973). While this particular variant has not been reported in the literature, numerous pathogenic truncating variants have been reported downstream of this c.5428G>T variant in individuals affected with SCN5A-related conditions, suggesting that the C-terminal portion of the protein is clinically important (PMID: 14961552, 20129283, 24363796). For these reasons, this variant has been classified as Pathogenic.

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