ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.59dup (p.Cys21fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003511286 SCV004285330 pathogenic Brugada syndrome 5 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys21Leufs*32) in the SCN1B gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SCN1B are known to be pathogenic (PMID: 17629415, 30660056). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. For these reasons, this variant has been classified as Pathogenic.

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