Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000240855 | SCV000655832 | likely pathogenic | Charcot-Marie-Tooth disease, axonal, type 2z | 2019-02-08 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with glycine at codon 174 of the MORC2 protein (p.Glu174Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in several individuals affected with Charcot-Marie-Tooth disease type 2 (PMID: 26659848, Invitae). This variant is also known as c.707A>G (p.E236G) in the literature. ClinVar contains an entry for this variant (Variation ID: 254251). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
OMIM | RCV000240855 | SCV000299344 | pathogenic | Charcot-Marie-Tooth disease, axonal, type 2z | 2017-08-04 | no assertion criteria provided | literature only | |
Genesis Genome Database | RCV000857125 | SCV000999703 | uncertain significance | Charcot-Marie-Tooth disease | 2019-08-14 | no assertion criteria provided | research |