ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.5587G>T (p.Glu1863Ter) (rs1060501129)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467388 SCV000545020 uncertain significance Brugada syndrome 2016-04-30 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 1864 (p.Glu1864*). While this is not anticipated to result in nonsense mediated decay, it is expected to create a truncated SCN5A protein. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a SCN5A-related disease. In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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