Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000819680 | SCV000960354 | uncertain significance | ALG2-congenital disorder of glycosylation; Congenital myasthenic syndrome 14 | 2023-08-10 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 129 of the ALG2 protein (p.Arg129Gln). 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. 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. ClinVar contains an entry for this variant (Variation ID: 662111). This variant has not been reported in the literature in individuals affected with ALG2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). |