Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001248201 | SCV001421671 | uncertain significance | MGAT2-congenital disorder of glycosylation | 2023-09-13 | 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. This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 49 of the MGAT2 protein (p.Gly49Asp). This variant is present in population databases (rs201411811, gnomAD 0.006%). This variant has not been reported in the literature in individuals affected with MGAT2-related conditions. ClinVar contains an entry for this variant (Variation ID: 972224). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be tolerated. |
Fulgent Genetics, |
RCV001248201 | SCV002815614 | uncertain significance | MGAT2-congenital disorder of glycosylation | 2022-01-14 | criteria provided, single submitter | clinical testing |