ClinVar Miner

Submissions for variant NM_001037.5(SCN1B):c.259G>A (p.Glu87Lys)

gnomAD frequency: 0.00001  dbSNP: rs121434627
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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 RCV001340705 SCV001534530 uncertain significance Brugada syndrome 5 2020-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with lysine at codon 87 of the SCN1B protein (p.Glu87Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs121434627, ExAC 0.006%). This variant has not been reported in the literature in individuals with SCN1B-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: "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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