ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.39G>C (p.Leu13=)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003509168 SCV004369472 uncertain significance Brugada syndrome 5 2022-12-29 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This sequence change affects codon 13 of the SCN1B mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SCN1B protein. It affects a nucleotide within the consensus splice site.

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