ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.3037A>G (p.Ser1013Gly)

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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 RCV003639614 SCV004399074 uncertain significance Gastrointestinal stromal tumor 2023-10-22 criteria provided, single submitter clinical testing This sequence change replaces serine, which is neutral and polar, with glycine, which is neutral and non-polar, at codon 1013 of the PDGFRA protein (p.Ser1013Gly). 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. 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. 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 RCV004654274 SCV005151708 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-24 criteria provided, single submitter clinical testing The p.S1013G variant (also known as c.3037A>G), located in coding exon 21 of the PDGFRA gene, results from an A to G substitution at nucleotide position 3037. The serine at codon 1013 is replaced by glycine, an amino acid with similar properties. This amino acid position is conserved. 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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