ClinVar Miner

Submissions for variant NM_005163.2(AKT1):c.1373T>C (p.Met458Thr) (rs587778018)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000464381 SCV000551787 uncertain significance Cowden syndrome 6 2017-09-01 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 458 of the AKT1 protein (p.Met458Thr). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is present in population databases (rs587778018, ExAC 0.05%). This variant has not been reported in the literature in individuals with AKT1-related disease. ClinVar contains an entry for this variant (Variation ID: 133454). 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, 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.
ITMI RCV000119958 SCV000084088 not provided not specified 2013-09-19 no assertion provided reference population

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.