ClinVar Miner

Submissions for variant NM_001323289.2(CDKL5):c.2195T>A (p.Val732Glu)

dbSNP: rs1926617510
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001230011 SCV001402478 uncertain significance Developmental and epileptic encephalopathy, 2; Angelman syndrome-like 2019-08-13 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 valine with glutamic acid at codon 732 of the CDKL5 protein (p.Val732Glu). The valine residue is highly conserved and there is a moderate physicochemical difference between valine and glutamic acid.

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