Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002049205 | SCV002111513 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2022-11-07 | criteria provided, single submitter | clinical testing | 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt MATR3 protein function. ClinVar contains an entry for this variant (Variation ID: 1351334). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs144637575, gnomAD 0.03%). This sequence change replaces asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 755 of the MATR3 protein (p.Asn755Ser). |
| Ambry Genetics | RCV003289119 | SCV003970964 | uncertain significance | Inborn genetic diseases | 2023-04-18 | criteria provided, single submitter | clinical testing | The c.2264A>G (p.N755S) alteration is located in exon 16 (coding exon 12) of the MATR3 gene. This alteration results from a A to G substitution at nucleotide position 2264, causing the asparagine (N) at amino acid position 755 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |