ClinVar Miner

Submissions for variant NM_005163.2(AKT1):c.797C>T (p.Ser266Leu) (rs549083521)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000806321 SCV000946311 uncertain significance Cowden syndrome 6 2019-07-02 criteria provided, single submitter clinical testing This sequence change replaces serine with leucine at codon 266 of the AKT1 protein (p.Ser266Leu). The serine residue is highly conserved and there is a large physicochemical difference between serine and leucine. This variant is present in population databases (rs549083521, ExAC 0.01%). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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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