ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.1259G>A (p.Gly420Glu)

dbSNP: rs28938171
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000007989 SCV003525757 uncertain significance Fibrous dysplasia of jaw 2022-11-23 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 variant disrupts the p.Gly420 amino acid residue in SH3BP2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 12900899, 23298620). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Experimental studies have shown that this missense change affects SH3BP2 function (PMID: 16786512, 22153077). 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. ClinVar contains an entry for this variant (Variation ID: 7553). This missense change has been observed in individual(s) with cherubism (PMID: 11381256, 19576004). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 420 of the SH3BP2 protein (p.Gly420Glu).
OMIM RCV000007989 SCV000028194 pathogenic Fibrous dysplasia of jaw 2001-06-01 no assertion criteria provided literature only

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