ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.518G>A (p.Trp173Ter)

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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 RCV002898924 SCV003237632 pathogenic Brugada syndrome 5 2022-09-22 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp173*) 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). The SCN1B gene has multiple clinically relevant transcripts. This variant occurs in alternate transcript NM_001037.5, and corresponds to NM_199037.3:c.*5088G>A in the primary transcript.

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