ClinVar Miner

Submissions for variant NM_000335.4(SCN5A):c.1559T>G (p.Met520Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814097 SCV000954496 uncertain significance Brugada syndrome 2018-08-31 criteria provided, single submitter clinical testing This sequence change replaces methionine with arginine at codon 520 of the SCN5A protein (p.Met520Arg). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with long QT syndrome (PMID: 19841300). 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: "Benign"; Align-GVGD: "Class C0"). 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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