ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.1524G>A (p.Val508=)

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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 RCV003061678 SCV003462558 uncertain significance Fibrous dysplasia of jaw 2023-08-29 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 2152479). This variant has not been reported in the literature in individuals affected with SH3BP2-related conditions. This variant is present in population databases (rs749099956, gnomAD 0.004%). This sequence change affects codon 508 of the SH3BP2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the SH3BP2 protein.

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