Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001236729 | SCV001409465 | uncertain significance | Charcot-Marie-Tooth disease type 4 | 2019-09-29 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with proline at codon 502 of the SH3TC2 protein (p.Ser502Pro). The serine residue is highly conserved and there is a moderate physicochemical difference between serine and proline. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with SH3TC2-related conditions. This variant is not present in population databases (ExAC no frequency). |