Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000559740 | SCV000653975 | uncertain significance | Congenital myasthenic syndrome 8 | 2017-04-25 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an AGRN-related disease. This sequence change replaces serine with arginine at codon 1909 of the AGRN protein (p.Ser1909Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. |