Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000702950 | SCV000831827 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2018-05-01 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with proline at codon 221 of the SH3TC2 protein (p.Ser221Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs747024391, ExAC 0.01%). 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: "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. |
Molecular Genetics Laboratory, |
RCV001173832 | SCV001336948 | uncertain significance | Charcot-Marie-Tooth disease | criteria provided, single submitter | clinical testing |