ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+135G>T

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003877664 SCV004675714 uncertain significance Brugada syndrome 5 2023-04-26 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change creates a premature translational stop signal (p.Glu195*) in the SCN1B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 74 amino acid(s) of the SCN1B protein.

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