ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2741G>A (p.Arg914Gln)

dbSNP: rs1428997941
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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 RCV000633744 SCV000755017 uncertain significance Gastrointestinal stromal tumor 2023-11-07 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 914 of the PDGFRA protein (p.Arg914Gln). This variant is not present in population databases (gnomAD no frequency). 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: 528523). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on PDGFRA protein function. 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 RCV001016463 SCV001177422 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-06 criteria provided, single submitter clinical testing The p.R914Q variant (also known as c.2741G>A), located in coding exon 19 of the PDGFRA gene, results from a G to A substitution at nucleotide position 2741. The arginine at codon 914 is replaced by glutamine, an amino acid with highly similar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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