ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1693A>G (p.Ile565Val)

dbSNP: rs1178831870
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000687737 SCV000815322 uncertain significance Gastrointestinal stromal tumor 2023-10-20 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 565 of the PDGFRA protein (p.Ile565Val). This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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: 567602). 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 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.
Ambry Genetics RCV002397377 SCV002712733 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-14 criteria provided, single submitter clinical testing The p.I565V variant (also known as c.1693A>G), located in coding exon 11 of the PDGFRA gene, results from an A to G substitution at nucleotide position 1693. The isoleucine at codon 565 is replaced by valine, 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
GeneDx RCV004820089 SCV005441290 uncertain significance not provided 2024-06-24 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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