Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000550473 | SCV000658023 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2017-05-01 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with tryptophan at codon 1373 of the PRX protein (p.Arg1373Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. This variant is present in population databases (rs766729202, ExAC 0.003%) but has not been reported in the literature in individuals with a PRX-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance. |
| Athena Diagnostics Inc | RCV000992715 | SCV001145216 | uncertain significance | not provided | 2019-01-29 | criteria provided, single submitter | clinical testing |