ClinVar Miner

Submissions for variant NM_000335.5(SCN5A):c.4326C>A (p.Asn1442Lys)

dbSNP: rs1575718424
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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 RCV000819493 SCV000960157 uncertain significance Brugada syndrome 2021-08-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine with lysine at codon 1443 of the SCN5A protein (p.Asn1443Lys). The asparagine residue is highly conserved and there is a moderate physicochemical difference between asparagine and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with SCN5A-related conditions. ClinVar contains an entry for this variant (Variation ID: 661963). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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