Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001069387 | SCV001234551 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2020-02-14 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals with MATR3-related conditions. This variant is not present in population databases (ExAC no frequency). This variant, c.1885_1887del, results in the deletion of 1 amino acid(s) of the MATR3 protein (p.Glu629del), but otherwise preserves the integrity of the reading frame. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the affected amino acid(s) is currently unknown. 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. |