ClinVar Miner

Submissions for variant NM_172107.4(KCNQ2):c.847A>G (p.Lys283Glu) (rs1600755429)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000803676 SCV000943558 likely pathogenic Early infantile epileptic encephalopathy 2019-02-15 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 283 of the KCNQ2 protein (p.Lys283Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual affected with a seizure disorder (Invitae). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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