ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2153G>A (p.Arg718Gln)

gnomAD frequency: 0.00002  dbSNP: rs367722824
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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 RCV000461680 SCV000546588 uncertain significance Gastrointestinal stromal tumor 2023-12-21 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 718 of the PDGFRA protein (p.Arg718Gln). This variant is present in population databases (rs367722824, gnomAD 0.003%). 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: 407393). 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.
Baylor Genetics RCV003476046 SCV004200974 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2024-02-06 criteria provided, single submitter clinical testing
Ambry Genetics RCV004943874 SCV005471007 uncertain significance Hereditary cancer-predisposing syndrome 2024-12-08 criteria provided, single submitter clinical testing The p.R718Q variant (also known as c.2153G>A), located in coding exon 14 of the PDGFRA gene, results from a G to A substitution at nucleotide position 2153. The arginine at codon 718 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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