Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000707256 | SCV000836346 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-08-30 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine with cysteine at codon 440 of the SH3TC2 protein (p.Arg440Cys). The arginine residue is weakly conserved and there is a large physicochemical difference between arginine and cysteine. This variant is present in population databases (rs768012192, ExAC 0.006%). This variant has not been reported in the literature in individuals with SH3TC2-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: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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 | RCV000713262 | SCV000843850 | uncertain significance | not provided | 2018-02-22 | criteria provided, single submitter | clinical testing | |
Molecular Genetics Laboratory, |
RCV001173838 | SCV001336954 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |