ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.347del (p.Ser116fs)

dbSNP: rs794727487
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177106 SCV000228932 pathogenic not provided 2015-03-02 criteria provided, single submitter clinical testing
Invitae RCV001320975 SCV001511787 pathogenic Brugada syndrome 5 2023-11-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser116Trpfs*31) in the SCN1B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 153 amino acid(s) of the SCN1B protein. This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with seizures (PMID: 29056246). ClinVar contains an entry for this variant (Variation ID: 196303). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant disrupts a region of the SCN1B protein in which other variant(s) (p.Trp179*) have been determined to be pathogenic (PMID: 18464934; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV000177106 SCV005080003 likely pathogenic not provided 2023-05-23 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Reported heterozygous in a patient with seizures and hypotonia in published literature, but familial segregation information was not provided (Butler et al., 2017); Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 29056246)

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