Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002235401 | SCV000961281 | uncertain significance | Hereditary spastic paraplegia 8; Ritscher-Schinzel syndrome | 2018-11-12 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces arginine with glutamine at codon 191 of the WASHC5 protein (p.Arg191Gln). The arginine residue is moderately conserved and there is a small physicochemical difference between arginine and glutamine. This variant has not been reported in the literature in individuals with WASHC5-related disease. 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"). |