ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.5383G>T (p.Glu1795Ter) (rs1553692734)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000707669 SCV000836774 pathogenic Brugada syndrome 2018-04-03 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the SCN5A gene (p.Glu1796*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 221 amino acids of the SCN5A protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with SCN5A-related disease. A different truncation (c.5445dupT also described as an insertion of T at position 98747) that lies downstream of this variant has been determined to be pathogenic (PMID: 24363796). This suggests that deletion of this region of the SCN5A protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.

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