ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2234T>C (p.Met745Thr)

dbSNP: rs1368223217
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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 RCV000818308 SCV000958912 uncertain significance Gastrointestinal stromal tumor 2023-10-09 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 745 of the PDGFRA protein (p.Met745Thr). 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: 660989). 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) has been performed at Invitae for this missense variant, however the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on 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.
Baylor Genetics RCV003473502 SCV004200976 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-05-18 criteria provided, single submitter clinical testing
Ambry Genetics RCV004028952 SCV005024456 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-26 criteria provided, single submitter clinical testing The p.M745T variant (also known as c.2234T>C), located in coding exon 15 of the PDGFRA gene, results from a T to C substitution at nucleotide position 2234. The methionine at codon 745 is replaced by threonine, 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. Based on the available evidence, the clinical significance of this alteration remains unclear.

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