Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV002048153 | SCV002288999 | uncertain significance | Vici syndrome | 2022-02-04 | 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. This variant has not been reported in the literature in individuals affected with EPG5-related conditions. This variant is present in population databases (rs764959017, gnomAD 0.008%), including at least one homozygous and/or hemizygous individual. This sequence change replaces glutamine, which is neutral and polar, with glutamic acid, which is acidic and polar, at codon 784 of the EPG5 protein (p.Gln784Glu). |