ClinVar Miner

Submissions for variant NM_002609.4(PDGFRB):c.875A>G (p.Asn292Ser)

gnomAD frequency: 0.00001  dbSNP: rs1175765188
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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 RCV001978827 SCV002226517 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 2021-05-16 criteria provided, single submitter clinical testing 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 sequence change replaces asparagine with serine at codon 292 of the PDGFRB protein (p.Asn292Ser). The asparagine residue is highly conserved and there is a small physicochemical difference between asparagine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PDGFRB-related conditions. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.
Ambry Genetics RCV004043097 SCV005002077 uncertain significance Inborn genetic diseases 2023-10-20 criteria provided, single submitter clinical testing The c.875A>G (p.N292S) alteration is located in exon 6 (coding exon 5) of the PDGFRB gene. This alteration results from a A to G substitution at nucleotide position 875, causing the asparagine (N) at amino acid position 292 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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