Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000540960 | SCV000653842 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2023-10-24 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 680 of the MATR3 protein (p.Asp680Asn). This variant is present in population databases (rs752161415, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. ClinVar contains an entry for this variant (Variation ID: 474081). 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 with a negative predictive value of 80%. 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. |
Genomic Research Center, |
RCV000540960 | SCV000930221 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2019-04-27 | criteria provided, single submitter | clinical testing | |
New York Genome Center | RCV000540960 | SCV002506746 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2021-05-21 | criteria provided, single submitter | clinical testing | |
Ambry Genetics | RCV003362844 | SCV004073188 | uncertain significance | Inborn genetic diseases | 2023-06-16 | criteria provided, single submitter | clinical testing | The c.2038G>A (p.D680N) 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 2038, causing the aspartic acid (D) at amino acid position 680 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |