ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.665G>A (p.Arg222Gln)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003078696 SCV003475454 uncertain significance Fibrous dysplasia of jaw 2022-08-21 criteria provided, single submitter clinical testing This variant is present in population databases (rs756724332, gnomAD 0.0009%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 222 of the SH3BP2 protein (p.Arg222Gln). This variant has not been reported in the literature in individuals affected with SH3BP2-related conditions. 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: "Probably Damaging"; Align-GVGD: "Class C0").

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