Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638200 | SCV000759686 | uncertain significance | Severe myoclonic epilepsy in infancy | 2017-11-02 | 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C55"). This variant has not been reported in the literature in individuals with SNX27-related disease. This variant is present in population databases (rs754578785, ExAC 0.009%). This sequence change replaces serine with glycine at codon 295 of the SNX27 protein (p.Ser295Gly). The serine residue is highly conserved and there is a small physicochemical difference between serine and glycine. |