ClinVar Miner

Submissions for variant NM_004588.5(SCN2B):c.602A>T (p.Glu201Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005129976 SCV005748313 uncertain significance Atrial fibrillation, familial, 14 2024-08-14 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 201 of the SCN2B protein (p.Glu201Val). This variant is present in population databases (rs772336314, gnomAD 0.003%). This variant has not been reported in the literature in individuals affected with SCN2B-related conditions. 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 disruptive. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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.

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