Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003087131 | SCV003486207 | uncertain significance | Amyotrophic lateral sclerosis type 21 | 2022-06-24 | 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 disruptive. 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 0.01%). This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 250 of the MATR3 protein (p.Tyr250Cys). |
Ambry Genetics | RCV003087130 | SCV003665206 | uncertain significance | Inborn genetic diseases | 2022-11-21 | criteria provided, single submitter | clinical testing | The c.749A>G (p.Y250C) alteration is located in exon 5 (coding exon 1) of the MATR3 gene. This alteration results from a A to G substitution at nucleotide position 749, causing the tyrosine (Y) at amino acid position 250 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |