Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001068589 | SCV001233711 | uncertain significance | Congenital myasthenic syndrome 8 | 2023-08-30 | criteria provided, single submitter | clinical testing | This variant is present in population databases (rs772102866, gnomAD 0.1%). 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 output the following: SIFT: "Not Available"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Not Available". The glutamine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. ClinVar contains an entry for this variant (Variation ID: 861960). This missense change has been observed in individual(s) with congenital myasthenic syndrome (PMID: 35670010). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 448 of the AGRN protein (p.Arg448Gln). |
Department of Neurology, |
RCV001068589 | SCV001916963 | pathogenic | Congenital myasthenic syndrome 8 | 2021-09-22 | no assertion criteria provided | clinical testing |