Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001222881 | SCV001395003 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-04-09 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with MTMR2-related conditions. 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. 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 tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant is present in population databases (rs756912172, ExAC 0.1%). This sequence change replaces glutamic acid with lysine at codon 8 of the MTMR2 protein (p.Glu8Lys). The glutamic acid residue is weakly conserved and there is a small physicochemical difference between glutamic acid and lysine. |
| Ambry Genetics | RCV002447123 | SCV002734086 | uncertain significance | Inborn genetic diseases | 2022-06-28 | criteria provided, single submitter | clinical testing | The p.E8K variant (also known as c.22G>A), located in coding exon 1 of the MTMR2 gene, results from a G to A substitution at nucleotide position 22. The glutamic acid at codon 8 is replaced by lysine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |