Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001896613 | SCV002168817 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2022-08-25 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 127 of the MATR3 protein (p.Arg127Cys). This variant is present in population databases (rs768516057, gnomAD 0.002%). ClinVar contains an entry for this variant (Variation ID: 1400201). 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 disruptive. 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 | RCV004041733 | SCV004903391 | uncertain significance | Inborn genetic diseases | 2023-12-15 | criteria provided, single submitter | clinical testing | The c.379C>T (p.R127C) alteration is located in exon 5 (coding exon 1) of the MATR3 gene. This alteration results from a C to T substitution at nucleotide position 379, causing the arginine (R) at amino acid position 127 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |