ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+135dup

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003509143 SCV004301880 uncertain significance Brugada syndrome 5 2023-05-08 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is present in population databases (rs761070541, gnomAD 0.003%). This sequence change results in a frameshift in the SCN1B gene (p.Glu195Glyfs*113). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 74 amino acid(s) of the SCN1B protein and extend the protein by 38 additional amino acid residues.

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