ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1751C>G (p.Pro584Arg)

dbSNP: rs863224946
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001335958 SCV001529224 pathogenic Myeloproliferative disorder, chronic, with eosinophilia 2018-07-06 criteria provided, single submitter clinical testing This variant was determined to be pathogenic according to ACMG Guidelines, 2015 [PMID:25741868]. Both patients presented somatic overgrowth, hyperelastic and fragile skin, and progressive neurologic deterioration (particularly impaired short-term memory) with white matter lesions on brain imaging [PMID 25454926] Functional studies showed that the P584R change constitutively activate the receptor in the absence of ligand [PMID 26455322]
Baylor Genetics RCV000200957 SCV004040695 pathogenic Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2023-03-28 criteria provided, single submitter clinical testing
OMIM RCV000200957 SCV000255604 pathogenic Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2015-02-01 no assertion criteria provided literature only

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