ClinVar Miner

Submissions for variant NM_005163.2(AKT1):c.440T>C (p.Met147Thr) (rs758456890)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000651047 SCV000772896 uncertain significance Cowden syndrome 6 2017-10-04 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 147 of the AKT1 protein (p.Met147Thr). The methionine residue is highly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs758456890, ExAC 0.02%). This variant has not been reported in the literature in individuals with AKT1-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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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