ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.2380G>A (p.Glu794Lys)

gnomAD frequency: 0.00001  dbSNP: rs765478860
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003788020 SCV004604881 uncertain significance Acroosteolysis-keloid-like lesions-premature aging syndrome; Basal ganglia calcification, idiopathic, 4; Infantile myofibromatosis; Skeletal overgrowth-craniofacial dysmorphism-hyperelastic skin-white matter lesions syndrome 2023-06-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 794 of the PDGFRB protein (p.Glu794Lys). 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PDGFRB protein function. This variant has not been reported in the literature in individuals affected with PDGFRB-related conditions. This variant is present in population databases (rs765478860, gnomAD 0.006%).
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital RCV004719390 SCV005326292 uncertain significance not provided criteria provided, single submitter clinical testing The PDGFRB p.Glu794Lys variant is located in an intracellular tyrosine-kinase domain (Uniprot# P09619, amino acids: 600-962), resulting in the replacement of glutamic acid at position 794 with lysine. The p.Glu794Lys variant has not been previously reported in medical literature. This variant has also been observed in 15 heterozygotes in large population studies (gnomAD v4.0.0).

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