Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000688838 | SCV000816462 | uncertain significance | Charcot-Marie-Tooth disease, axonal, type 2z | 2018-06-29 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 523 of the MORC2 protein (p.Arg523Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs548292999, ExAC 0.01%). This variant has been observed in a family affected with Charcot-Marie-Tooth disease type 2 (CMT2), but this variant did not segregate with disease in that family (PMID: 26659848). 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 C15"). 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. |
| Genesis Genome Database | RCV000857116 | SCV000999694 | uncertain significance | Autosomal dominant distal hereditary motor neuropathy | 2019-08-14 | no assertion criteria provided | research |