Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genomic Research Center, |
RCV000790949 | SCV000930203 | uncertain significance | ALG2-congenital disorder of glycosylation | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Genomic Research Center, |
RCV000790950 | SCV000930204 | uncertain significance | Congenital myasthenic syndrome 14 | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Invitae | RCV002535820 | SCV003025048 | uncertain significance | ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 | 2022-03-26 | criteria provided, single submitter | clinical testing | This variant is present in population databases (no rsID available, gnomAD 0.01%). 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: 638332). This variant has not been reported in the literature in individuals affected with ALG2-related conditions. This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 107 of the ALG2 protein (p.Glu107Lys). |