ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1015G>T (p.Val339Leu)

gnomAD frequency: 0.00001  dbSNP: rs747257877
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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 RCV001952751 SCV002210182 uncertain significance Gastrointestinal stromal tumor 2022-04-24 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. 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. This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (rs747257877, gnomAD 0.002%). This sequence change replaces valine, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 339 of the PDGFRA protein (p.Val339Leu).
Ambry Genetics RCV004042115 SCV005024324 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-14 criteria provided, single submitter clinical testing The p.V339L variant (also known as c.1015G>T), located in coding exon 6 of the PDGFRA gene, results from a G to T substitution at nucleotide position 1015. The valine at codon 339 is replaced by leucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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