ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1699A>G (p.Lys567Glu) (rs1554108389)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Hunter Genetics General Clinical Genetics Service,Hunter Genetics RCV000498591 SCV000485051 pathogenic Infantile myofibromatosis 1 2016-12-01 no assertion criteria provided in vitro The disease exhibited autosomal dominant inheritance with variable penetrance in this family. The affected residue is close to other reported mutation, and is highly conserved during evolution (figure 2). 3D modeling by SwissModel (https://swissmodel.expasy.org) using RCSB PDB file 1T45 (crystal structure of c-kit kinase12) shows that the mutated lysine 567 residue might interact with the glutamic acid and the isoleucine residues at positions 563 and 564 respectively. It is possible that this mutation affects the ability of the JM domain (in which it is situated) to correctly autoinhibit the kinase domain13, and might thus act as an activating mutation.

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