Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001061577 | SCV001226325 | pathogenic | Charcot-Marie-Tooth disease, type I | 2019-03-08 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 106 of the MPZ protein (p.Arg106Cys). The arginine residue is moderately conserved and there is a large physicochemical difference between arginine and cysteine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Charcot-Marie-Tooth disease (CMT) and to segregate with CMT in a family (PMID: 22222859). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). For these reasons, this variant has been classified as Pathogenic. |
Inherited Neuropathy Consortium | RCV000790114 | SCV000929504 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |