Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000809955 | SCV000950140 | uncertain significance | Xanthinuria type II | 2022-06-03 | 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: 654064). This variant has not been reported in the literature in individuals affected with MOCOS-related conditions. This variant is present in population databases (rs771741997, gnomAD 0.007%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 573 of the MOCOS protein (p.Gly573Glu). |
Fulgent Genetics, |
RCV000809955 | SCV002783332 | uncertain significance | Xanthinuria type II | 2022-03-04 | criteria provided, single submitter | clinical testing |