ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1926G>A (p.Met642Ile)

dbSNP: rs1553904882
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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 RCV000560051 SCV000630587 uncertain significance Gastrointestinal stromal tumor 2023-10-13 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 642 of the PDGFRA protein (p.Met642Ile). 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. ClinVar contains an entry for this variant (Variation ID: 459033). 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. 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.
Institute of Human Genetics, University of Leipzig Medical Center RCV001262590 SCV001440518 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2019-01-01 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV002258945 SCV002538556 uncertain significance Hereditary cancer-predisposing syndrome 2022-01-21 criteria provided, single submitter curation
Ambry Genetics RCV002258945 SCV002721539 uncertain significance Hereditary cancer-predisposing syndrome 2024-07-17 criteria provided, single submitter clinical testing The p.M642I variant (also known as c.1926G>A), located in coding exon 13 of the PDGFRA gene, results from a G to A substitution at nucleotide position 1926. The methionine at codon 642 is replaced by isoleucine, an amino acid with highly 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.

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