Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001301110 | SCV001490270 | uncertain significance | Fibrous dysplasia of jaw | 2023-10-09 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 7 of the SH3BP2 gene. It does not directly change the encoded amino acid sequence of the SH3BP2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs758216830, 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: 1004411). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |