ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.1517A>G (p.Lys506Arg)

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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 RCV003014538 SCV003320635 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2022-02-20 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with SCN2A-related conditions. This sequence change replaces lysine, which is basic and polar, with arginine, which is basic and polar, at codon 506 of the SCN2A protein (p.Lys506Arg). This variant is not present in population databases (gnomAD no frequency). 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 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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