ClinVar Miner

Submissions for variant NM_002608.4(PDGFB):c.298C>T (p.Arg100Cys)

dbSNP: rs1180781773
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet RCV002226977 SCV002505894 uncertain significance Basal ganglia calcification, idiopathic, 5 2021-08-01 criteria provided, single submitter clinical testing
GeneDx RCV003228057 SCV003924839 uncertain significance not provided 2022-11-10 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 35747618)
Labcorp Genetics (formerly Invitae), Labcorp RCV003228057 SCV005807925 uncertain significance not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 100 of the PDGFB protein (p.Arg100Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with PDGFB-related conditions (PMID: 35747618). ClinVar contains an entry for this variant (Variation ID: 1679380). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt PDGFB protein function with a positive predictive value of 80%. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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