ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.591-12_606del

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002815618 SCV003207797 likely pathogenic Brugada syndrome 5 2022-11-19 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant has been observed in individual(s) with clinical features of autosomal dominant SCN1B-related conditions (Invitae). This variant is not present in population databases (gnomAD no frequency). This variant results in the deletion of part of exon 5 (c.591-12_606del) of the SCN1B gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in SCN1B are known to be pathogenic (PMID: 17629415, 30660056). The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.3:c.*5525_*5552del in the primary transcript.

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