ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.1033C>G (p.Pro345Ala)

dbSNP: rs1317170986
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Total submissions: 1
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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).

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