Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000527666 | SCV000632342 | uncertain significance | Reticular dysgenesis | 2020-10-01 | criteria provided, single submitter | clinical testing | 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. 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"). This variant has not been reported in the literature in individuals with a AK2-related disease. 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 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. |
| Ambry Genetics | RCV002528323 | SCV003535078 | uncertain significance | Inborn genetic diseases | 2022-12-19 | criteria provided, single submitter | clinical testing | The c.277A>G (p.K93E) alteration is located in exon 3 (coding exon 3) of the AK2 gene. This alteration results from a A to G substitution at nucleotide position 277, causing the lysine (K) at amino acid position 93 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |