ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.466A>C (p.Lys156Gln)

dbSNP: rs1553567130
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001201865 SCV001372956 uncertain significance Seizures, benign familial infantile, 3; Developmental and epileptic encephalopathy, 11 2019-07-28 criteria provided, single submitter clinical testing 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. 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"). This variant has not been reported in the literature in individuals with SCN2A-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces lysine with glutamine at codon 156 of the SCN2A protein (p.Lys156Gln). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamine.
Mayo Clinic Laboratories, Mayo Clinic RCV001507574 SCV001713196 uncertain significance not provided 2019-04-03 criteria provided, single submitter clinical testing
Neurology Department, Shenzhen Children's Hospital RCV001847188 SCV002099457 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2022-02-16 no assertion criteria provided clinical testing

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