Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV000798700 | SCV000938327 | uncertain significance | Charcot-Marie-Tooth disease axonal type 2Z | 2018-12-05 | criteria provided, single submitter | clinical testing | 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: "Benign"; Align-GVGD: "Class 0"). 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. This variant has not been reported in the literature in individuals with MORC2-related conditions. This variant is present in population databases (rs760345377, ExAC 0.002%). This sequence change replaces leucine with valine at codon 58 of the MORC2 protein (p.Leu58Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. |