Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000638174 | SCV000759660 | uncertain significance | Charcot-Marie-Tooth disease, type I | 2017-12-14 | criteria provided, single submitter | clinical testing | This sequence change replaces valine with phenylalanine at codon 58 of the MPZ protein (p.Val58Phe). The valine residue is moderately conserved and there is a small physicochemical difference between valine and phenylalanine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual affected with Charcot-Marie-Tooth disease, type 1 (PMID: 9452099). 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: "Deleterious"; PolyPhen-2: "Possibly 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 | RCV000789480 | SCV000928836 | uncertain significance | Charcot-Marie-Tooth disease | no assertion criteria provided | literature only |