Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000797638 | SCV000937206 | uncertain significance | Fibrous dysplasia of jaw | 2018-12-14 | criteria provided, single submitter | clinical testing | This sequence change replaces proline with alanine at codon 345 of the SH3BP2 protein (p.Pro345Ala). The proline residue is moderately conserved and there is a small physicochemical difference between proline and alanine. 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: "Benign"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with SH3BP2-related conditions. This variant is not present in population databases (ExAC no frequency). |