Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002032241 | SCV002315109 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2022-10-13 | 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: 1525141). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (rs759928245, gnomAD 0.02%). This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 719 of the MATR3 protein (p.Lys719Glu). |
| Prevention |
RCV004538753 | SCV004121607 | uncertain significance | MATR3-related disorder | 2022-12-15 | criteria provided, single submitter | clinical testing | The MATR3 c.2155A>G variant is predicted to result in the amino acid substitution p.Lys719Glu. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.020% of alleles in individuals of East Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-138661135-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |