ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.4179C>G (p.Tyr1393Ter) (rs863224532)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000199303 SCV000253978 pathogenic Brugada syndrome 2018-11-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr1394*) in the SCN5A gene. It is expected to result in an absent or disrupted protein product. This variant has been observed in an individual referred for Brugada syndrome testing (PMID: 20129283). ClinVar contains an entry for this variant (Variation ID: 216141). Loss-of-function variants in SCN5A are known to be pathogenic (PMID: 20129283, 22789973). For these reasons, this variant has been classified as Pathogenic.

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