Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| ARUP Laboratories, |
RCV000506570 | SCV000603716 | uncertain significance | not specified | 2017-01-31 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000560685 | SCV000657855 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2018-11-07 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 716 of the FIG4 protein (p.Arg716Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs139235893, ExAC 0.01%). This variant has not been reported in the literature in individuals with FIG4-related disease. ClinVar contains an entry for this variant (Variation ID: 439727). 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: "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. |