Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035283 | SCV001198607 | uncertain significance | Charcot-Marie-Tooth disease, type 4A | 2019-11-13 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with glycine at codon 273 of the GDAP1 protein (p.Arg273Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Charcot-Marie-Tooth disease (PMID: 20232219). 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: "Tolerated"; 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. |
Inherited Neuropathy Consortium | RCV000789148 | SCV000928500 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |