ClinVar Miner

Submissions for variant NM_001625.4(AK2):c.277A>G (p.Lys93Glu) (rs767276648)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000527666 SCV000632342 uncertain significance Reticular dysgenesis 2017-06-21 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 93 of the AK2 protein (p.Lys93Glu). The lysine residue is highly conserved and there is a small physicochemical difference between lysine and glutamic acid. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the ExAC database. This variant has not been reported in the literature in individuals with a AK2-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 C55"). In summary, this variant has uncertain impact on AK2 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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