Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001205659 | SCV001376928 | uncertain significance | Congenital myasthenic syndrome 8 | 2019-06-17 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. This variant has not been reported in the literature in individuals with AGRN-related conditions. This variant is present in population databases (rs746008311, ExAC 0.002%). This sequence change replaces tryptophan with arginine at codon 441 of the AGRN protein (p.Trp441Arg). The tryptophan residue is weakly conserved and there is a moderate physicochemical difference between tryptophan and arginine. |