ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1466C>T (p.Thr489Ile)

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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 RCV002396837 SCV002701240 uncertain significance Hereditary cancer-predisposing syndrome 2024-08-31 criteria provided, single submitter clinical testing The p.T489I variant (also known as c.1466C>T), located in coding exon 9 of the PDGFRA gene, results from a C to T substitution at nucleotide position 1466. The threonine at codon 489 is replaced by isoleucine, an amino acid with 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003095199 SCV003293066 uncertain significance Gastrointestinal stromal tumor 2023-05-10 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. 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. ClinVar contains an entry for this variant (Variation ID: 1773263). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces threonine, which is neutral and polar, with isoleucine, which is neutral and non-polar, at codon 489 of the PDGFRA protein (p.Thr489Ile).

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