Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000822076 | SCV000962861 | uncertain significance | not provided | 2018-08-17 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 923 of the MAGEL2 protein (p.Glu923Lys). There is a small physicochemical difference between glutamic acid and lysine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MAGEL2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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 | RCV003279113 | SCV003975028 | uncertain significance | Inborn genetic diseases | 2023-05-23 | criteria provided, single submitter | clinical testing | The c.2767G>A (p.E923K) alteration is located in exon 1 (coding exon 1) of the MAGEL2 gene. This alteration results from a G to A substitution at nucleotide position 2767, causing the glutamic acid (E) at amino acid position 923 to be replaced by a lysine (K). This variant was not reported in population-based cohorts in the Genome Aggregation Database (gnomAD). This amino acid position is well conserved in available vertebrate species. This alteration is predicted to be tolerated by in silico analysis. Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |