Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001213550 | SCV001385185 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-08-05 | 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with PRX-related conditions. This variant is present in population databases (rs773206299, ExAC 0.01%). This sequence change replaces leucine with phenylalanine at codon 587 of the PRX protein (p.Leu587Phe). The leucine residue is weakly conserved and there is a small physicochemical difference between leucine and phenylalanine. |