Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001215473 | SCV001387219 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-04-02 | criteria provided, single submitter | clinical testing | 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. 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 C15"). This variant has not been reported in the literature in individuals with FIG4-related conditions. This variant is present in population databases (rs552937585, ExAC 0.006%). This sequence change replaces arginine with tryptophan at codon 766 of the FIG4 protein (p.Arg766Trp). The arginine residue is moderately conserved and there is a moderate physicochemical difference between arginine and tryptophan. |
Genome |
RCV003483791 | SCV004228547 | not provided | Charcot-Marie-Tooth disease type 4J; Yunis-Varon syndrome | no assertion provided | phenotyping only | Variant interpreted as Uncertain significance and reported on 04-05-2019 by Lab Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information. |