Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000652691 | SCV000774562 | uncertain significance | Charcot-Marie-Tooth disease, axonal, type 2z | 2018-11-27 | criteria provided, single submitter | clinical testing | This sequence change replaces threonine with methionine at codon 218 of the MORC2 protein (p.Thr218Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. This variant is present in population databases (rs764379949, ExAC 0.001%). This variant has not been reported in the literature in individuals with MORC2-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: "Probably 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. |