ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.757G>A (p.Asp253Asn)

gnomAD frequency: 0.00002  dbSNP: rs763881667
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001369854 SCV001566307 uncertain significance Fibrous dysplasia of jaw 2023-10-28 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 253 of the SH3BP2 protein (p.Asp253Asn). This variant is present in population databases (rs763881667, gnomAD 0.006%). 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: 1060420). 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 with a negative predictive value of 80%. 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.

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