ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.1279C>T (p.Pro427Ser)

gnomAD frequency: 0.00031  dbSNP: rs199873101
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001471909 SCV001676032 likely benign Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2022-10-04 criteria provided, single submitter clinical testing
GeneDx RCV000945324 SCV001938052 benign not provided 2021-05-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002547172 SCV003532131 likely benign Inborn genetic diseases 2021-12-14 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
PreventionGenetics, part of Exact Sciences RCV003925851 SCV004744202 likely benign PDGFRB-related condition 2021-12-29 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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