ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.5G>A (p.Gly2Glu)

dbSNP: rs2110235021
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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 RCV001961963 SCV002132660 uncertain significance Gastrointestinal stromal tumor 2023-09-08 criteria provided, single submitter clinical testing 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. This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 2 of the PDGFRA protein (p.Gly2Glu). 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: 1366070). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.
Ambry Genetics RCV002359312 SCV002656161 uncertain significance Hereditary cancer-predisposing syndrome 2022-04-29 criteria provided, single submitter clinical testing The p.G2E variant (also known as c.5G>A), located in coding exon 1 of the PDGFRA gene, results from a G to A substitution at nucleotide position 5. The glycine at codon 2 is replaced by glutamic acid, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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