ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+333C>T

gnomAD frequency: 0.00004  dbSNP: rs946024438
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV002259439 SCV002538715 uncertain significance not provided 2022-06-16 criteria provided, single submitter clinical testing Nonsense variant predicted to result in protein truncation as the last 8 amino acids are lost, although loss-of-function variants have not been reported downstream of this position in the protein; Has not been previously published as pathogenic or benign to our knowledge; Reported using an alternate transcript of the gene
Labcorp Genetics (formerly Invitae), Labcorp RCV003101437 SCV002940045 uncertain significance Brugada syndrome 5 2023-02-18 criteria provided, single submitter clinical testing 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. This sequence change creates a premature translational stop signal (p.Arg261*) in the SCN1B gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 8 amino acid(s) of the SCN1B protein. This variant is present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. ClinVar contains an entry for this variant (Variation ID: 1693012). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown.

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