ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1697_1702del (p.Trp566_Val568delinsLeu)

dbSNP: rs1060499543
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Demoulin lab, University of Louvain RCV000454373 SCV000484409 pathogenic Infantile myofibromatosis 2016-12-01 no assertion criteria provided research This mutation was found in one patient with myofibromatosis. It strongly activates PDGFRB signaling in cell culture (gain of function). We sequenced PDGFRB in myofibromatosis cases using the Ion Torrent technology. All variants were confirmed by an alternative method (allele specific PCR or Sanger sequencing). Mutants were functionally characterized in experiments based on cell transfection.

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