Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000640810 | SCV000762409 | uncertain significance | Infantile-onset X-linked spinal muscular atrophy | 2017-11-08 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with UBA1-related disease. This sequence change replaces glycine with glutamic acid at codon 245 of the UBA1 protein (p.Gly245Glu). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and glutamic acid. |