ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+287_448+290del

dbSNP: rs762523720
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001769150 SCV002003262 uncertain significance not provided 2021-09-15 criteria provided, single submitter clinical testing Located in an alternate transcript of the gene; Nonsense variant predicted to result in protein truncation as the last 23 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Not observed at significant frequency in large population cohorts (Lek et al., 2016); Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001868583 SCV002259773 uncertain significance Brugada syndrome 5 2022-03-02 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser246*) in the SCN1B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 23 amino acid(s) of the SCN1B protein. 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 1313199). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions.

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