Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000240855 | SCV000655832 | pathogenic | Charcot-Marie-Tooth disease axonal type 2Z | 2024-01-19 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 236 of the MORC2 protein (p.Glu236Gly). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with Charcot-Marie-Tooth disease type 2 (PMID: 26659848; Invitae). This variant is also known as c.521A>G (p.Glu174Gly). ClinVar contains an entry for this variant (Variation ID: 254251). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt MORC2 protein function with a positive predictive value of 95%. For these reasons, this variant has been classified as 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 |