ClinVar Miner

Submissions for variant NM_005163.2(AKT1):c.545A>G (p.Lys182Arg) (rs1555383695)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651044 SCV000772893 uncertain significance Cowden syndrome 6 2017-11-27 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 182 of the AKT1 protein (p.Lys182Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with AKT1-related disease. Experimental studies in tissue culture have shown that this missense change does not impact the ability of AKT1 to phosphorylate GSK3beta (PMID: 23884910). 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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