Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000704549 | SCV000833502 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2018-05-08 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine with cysteine at codon 400 of the FIG4 protein (p.Tyr400Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs755232396, ExAC 0.001%). This variant has not been reported in the literature in individuals with FIG4-related disease. 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: "Probably Damaging"; Align-GVGD: "Class C15"). 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. |
Athena Diagnostics Inc | RCV000991991 | SCV001143924 | uncertain significance | not provided | 2019-01-30 | criteria provided, single submitter | clinical testing |