Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001222468 | SCV001394567 | uncertain significance | PURA-related severe neonatal hypotonia-seizures-encephalopathy syndrome | 2019-07-01 | 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PURA-related conditions. This variant is present in population databases (rs763614822, ExAC 0.004%). This sequence change replaces glycine with glutamic acid at codon 52 of the PURA protein (p.Gly52Glu). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and glutamic acid. |