ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.1666G>A (p.Gly556Ser)

gnomAD frequency: 0.00004  dbSNP: rs201197278
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000629248 SCV000750178 uncertain significance Fibrous dysplasia of jaw 2023-07-10 criteria provided, single submitter clinical testing 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. This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 556 of the SH3BP2 protein (p.Gly556Ser). This variant is present in population databases (rs201197278, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with SH3BP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 525201). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt SH3BP2 protein function.
GeneDx RCV003233766 SCV003930562 uncertain significance not provided 2022-12-07 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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