ClinVar Miner

Submissions for variant RBPMS-MET fusion

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital RCV001257344 SCV001433870 other Infantile fibrosarcoma 2020-05-19 criteria provided, single submitter clinical testing This in-frame fusion event connects exon 5 of RBPMS (NM_006867.3) and exon 15 of MET (NM_000245.2), resulting in a 513-amino-acid chimeric protein. The fusion product results in juxtaposition of RBPMS, including the dimerization domain localized within the RNA recognition motif (RRM), to the intact MET protein kinase domain, a configuration predicted to result in kinase fusion gene activation.

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