ClinVar Miner

Submissions for variant NM_004588.5(SCN2B):c.139C>T (p.Arg47Cys)

gnomAD frequency: 0.00001  dbSNP: rs752526094
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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 RCV002637531 SCV003514698 uncertain significance Atrial fibrillation, familial, 14 2023-01-09 criteria provided, single submitter clinical testing This variant is present in population databases (rs752526094, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with SCN2B-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). 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 replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 47 of the SCN2B protein (p.Arg47Cys).

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