ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.448+135G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003623871 SCV004523240 uncertain significance Brugada syndrome 5 2023-06-27 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. This variant has not been reported in the literature in individuals affected with SCN1B-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.001%). This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 195 of the SCN1B protein (p.Glu195Lys).

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