ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1211G>C (p.Ser404Thr)

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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 RCV003283489 SCV004007098 uncertain significance Hereditary cancer-predisposing syndrome 2023-06-11 criteria provided, single submitter clinical testing The p.S404T variant (also known as c.1211G>C), located in coding exon 7 of the PDGFRA gene, results from a G to C substitution at nucleotide position 1211. The serine at codon 404 is replaced by threonine, 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 RCV003525387 SCV004365621 uncertain significance Gastrointestinal stromal tumor 2022-12-16 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. 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. 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 serine, which is neutral and polar, with threonine, which is neutral and polar, at codon 404 of the PDGFRA protein (p.Ser404Thr).

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