ClinVar Miner

Submissions for variant NM_005163.2(AKT1):c.431G>A (p.Arg144His) (rs1060503071)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000457583 SCV000551786 uncertain significance Cowden syndrome 6 2018-09-12 criteria provided, single submitter clinical testing This sequence change replaces arginine with histidine at codon 144 of the AKT1 protein (p.Arg144His). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and histidine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a 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 C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.

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