Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000651343 | SCV000773194 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2023-08-03 | 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 present in population databases (rs745440760, gnomAD 0.002%). This sequence change replaces alanine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 108 of the MATR3 protein (p.Ala108Ser). ClinVar contains an entry for this variant (Variation ID: 541136). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on MATR3 protein function. |
| Ambry Genetics | RCV004985047 | SCV005619627 | uncertain significance | Inborn genetic diseases | 2024-08-27 | criteria provided, single submitter | clinical testing | The c.322G>T (p.A108S) alteration is located in exon 5 (coding exon 1) of the MATR3 gene. This alteration results from a G to T substitution at nucleotide position 322, causing the alanine (A) at amino acid position 108 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |