ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.934A>G (p.Lys312Glu)

dbSNP: rs1569218064
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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 RCV000685230 SCV000812703 uncertain significance Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2018-05-17 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 312 of the CDKL5 protein (p.Lys312Glu). 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 not been reported in the literature in individuals with CDKL5-related disease. 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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