ClinVar Miner

Submissions for variant NM_001122681.2(SH3BP2):c.1464G>T (p.Arg488=)

gnomAD frequency: 0.00010  dbSNP: rs144848283
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768313 SCV000898972 uncertain significance Fibrous dysplasia of jaw 2021-03-30 criteria provided, single submitter clinical testing SH3BP2: NM_003023 exon 11 p.Arg488Arg (c.1464G>T): This variant has not been reported in the literature. Data from large control databases is insufficient for this variant. Evolutionary conservation and computational predictive tools for this variant are limited or unavailable. Of note, this variant is a silent variant and does not change the amino acid, reducing the probability that this variant is disease causing. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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