Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002637208 | SCV003513103 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2022-03-26 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 691 of the MATR3 protein (p.Gly691Glu). 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. 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 | RCV002612545 | SCV003627091 | uncertain significance | Inborn genetic diseases | 2022-07-19 | criteria provided, single submitter | clinical testing | The c.2072G>A (p.G691E) alteration is located in exon 15 (coding exon 11) of the MATR3 gene. This alteration results from a G to A substitution at nucleotide position 2072, causing the glycine (G) at amino acid position 691 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |