ClinVar Miner

Submissions for variant NM_003159.2(CDKL5):c.2243A>C (p.Asn748Thr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000814202 SCV000954603 uncertain significance Early infantile epileptic encephalopathy 2; Angelman syndrome-like 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces asparagine with threonine at codon 748 of the CDKL5 protein (p.Asn748Thr). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and threonine. 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 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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