Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001857792 | SCV002250484 | uncertain significance | Congenital myasthenic syndrome 8 | 2021-03-23 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has been observed in individual(s) with clinical features of congenital myasthenic syndrome (PMID: 28221305, Invitae). ClinVar contains an entry for this variant (Variation ID: 243039). This variant is present in population databases (rs764160563, ExAC 0.04%). This sequence change replaces glycine with serine at codon 1675 of the AGRN protein (p.Gly1675Ser). The glycine residue is highly conserved and there is a small physicochemical difference between glycine and serine. |
Gene |
RCV000235025 | SCV000292409 | not provided | Congenital myasthenic syndrome | no assertion provided | literature only |