ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1577C>T (p.Thr526Met)

gnomAD frequency: 0.00001  dbSNP: rs904415979
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000700389 SCV000829141 uncertain significance Gastrointestinal stromal tumor 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 526 of the PDGFRA protein (p.Thr526Met). This variant is present in population databases (no rsID available, gnomAD 0.003%). 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: 577591). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt PDGFRA protein function with a negative predictive value of 80%. 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 RCV002397445 SCV002709469 uncertain significance Hereditary cancer-predisposing syndrome 2022-10-17 criteria provided, single submitter clinical testing The p.T526M variant (also known as c.1577C>T), located in coding exon 10 of the PDGFRA gene, results from a C to T substitution at nucleotide position 1577. The threonine at codon 526 is replaced by methionine, an amino acid with similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Baylor Genetics RCV003472234 SCV004200937 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-08-09 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV004808851 SCV005435188 likely benign not provided 2024-09-01 criteria provided, single submitter clinical testing PDGFRA: BS2

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