Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Mayo Clinic Laboratories, |
RCV001508173 | SCV001714146 | uncertain significance | not provided | 2020-07-23 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001859349 | SCV002116439 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2022-06-27 | 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. 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 tolerated. ClinVar contains an entry for this variant (Variation ID: 1163259). This variant has not been reported in the literature in individuals affected with MATR3-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.004%). This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 710 of the MATR3 protein (p.Ala710Thr). |