Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000817227 | SCV000957777 | uncertain significance | Reticular dysgenesis | 2021-09-01 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine with threonine at codon 32 of the AK2 protein (p.Ala32Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant is present in population databases (rs779260498, ExAC 0.1%). This variant has not been reported in the literature in individuals affected with AK2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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. |
| Ambry Genetics | RCV003166365 | SCV003910871 | uncertain significance | Inborn genetic diseases | 2023-03-07 | criteria provided, single submitter | clinical testing | The c.94G>A (p.A32T) alteration is located in exon 2 (coding exon 2) of the AK2 gene. This alteration results from a G to A substitution at nucleotide position 94, causing the alanine (A) at amino acid position 32 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |