ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.856T>A (p.Tyr286Asn)

dbSNP: rs2147156130
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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 RCV001885746 SCV002137989 uncertain significance Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2021-02-28 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with CDKL5-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces tyrosine with asparagine at codon 286 of the CDKL5 protein (p.Tyr286Asn). The tyrosine residue is moderately conserved and there is a large physicochemical difference between tyrosine and asparagine.

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