ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.1554dup (p.Lys519Ter)

gnomAD frequency: 0.00001  dbSNP: rs1725126985
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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 RCV003620284 SCV004535851 uncertain significance Fibrous dysplasia of jaw 2024-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Lys519*) in the SH3BP2 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 43 amino acid(s) of the SH3BP2 protein. This variant is not present in population databases (gnomAD no frequency). 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.

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