ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.214A>G (p.Arg72Gly)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002432425 SCV002730642 uncertain significance Hereditary cancer-predisposing syndrome 2021-07-29 criteria provided, single submitter clinical testing The p.R72G variant (also known as c.214A>G), located in coding exon 2 of the PDGFRA gene, results from an A to G substitution at nucleotide position 214. The arginine at codon 72 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003121032 SCV003788753 uncertain significance Gastrointestinal stromal tumor 2022-04-12 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with glycine, which is neutral and non-polar, at codon 72 of the PDGFRA protein (p.Arg72Gly). 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.

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