ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1438G>A (p.Asp480Asn)

gnomAD frequency: 0.00001  dbSNP: rs746522772
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000541402 SCV000630554 uncertain significance Gastrointestinal stromal tumor 2023-12-03 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 480 of the PDGFRA protein (p.Asp480Asn). This variant is present in population databases (rs746522772, gnomAD 0.005%). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. ClinVar contains an entry for this variant (Variation ID: 459001). 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 PDGFRA protein function with a negative 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.
Ambry Genetics RCV002395324 SCV002699319 uncertain significance Hereditary cancer-predisposing syndrome 2023-01-05 criteria provided, single submitter clinical testing The p.D480N variant (also known as c.1438G>A), located in coding exon 9 of the PDGFRA gene, results from a G to A substitution at nucleotide position 1438. The aspartic acid at codon 480 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is poorly conserved in available vertebrate species. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV004568756 SCV005055174 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-12-28 criteria provided, single submitter clinical testing

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