ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.916A>G (p.Thr306Ala)

gnomAD frequency: 0.00001  dbSNP: rs1408714732
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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 RCV000687518 SCV000815090 uncertain significance Gastrointestinal stromal tumor 2023-07-25 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 567433). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 306 of the PDGFRA protein (p.Thr306Ala). 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.
Ambry Genetics RCV002369840 SCV002686150 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-01 criteria provided, single submitter clinical testing The p.T306A variant (also known as c.916A>G), located in coding exon 5 of the PDGFRA gene, results from an A to G substitution at nucleotide position 916. The threonine at codon 306 is replaced by alanine, 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.
Baylor Genetics RCV004568589 SCV005055192 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-11-21 criteria provided, single submitter clinical testing

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