Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000512796 | SCV000608904 | uncertain significance | not provided | 2017-04-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000654145 | SCV000776035 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with serine at codon 408 of the PRX protein (p.Pro408Ser). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline and serine. This variant is present in population databases (rs150244426, ExAC 0.1%). This variant has not been reported in the literature in individuals with PRX-related disease. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Molecular Genetics Laboratory, |
RCV001173746 | SCV001336860 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |