ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1998C>A (p.Asn666Lys) (rs864309711)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine RCV000203292 SCV000256760 likely pathogenic Infantile myofibromatosis 1 2013-02-12 criteria provided, single submitter research This mutation has been found in two myofibromas from one of the affected familial cases.
Demoulin lab,University of Louvain RCV000454371 SCV000494643 pathogenic Infantile myofibromatosis 2017-02-01 criteria provided, single submitter research This mutation was found in two patients with myofibromatosis in our cohort and has been reported by others. It strongly activates PDGFRB signaling in cell culture (gain of function). It was associated with other mutations in the same gene: in one patient, it was associated with c.1696T>C (p.W566R) and in a second case, with c.1681C>T (p.R561C). Another variant, c.1998C>G, leads to the same amino acid change (p.N666K).

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