Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000654167 | SCV000776057 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2017-12-01 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with methionine at codon 572 of the PRX protein (p.Val572Met). The valine residue is highly conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs370979792, ExAC 0.002%). 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: "Deleterious"; 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, |
RCV001173748 | SCV001336862 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |