ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2395A>G (p.Thr799Ala)

dbSNP: rs1221831022
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001944038 SCV002210247 uncertain significance Gastrointestinal stromal tumor 2022-10-28 criteria provided, single submitter clinical testing This variant is present in population databases (no rsID available, gnomAD 0.0009%). 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) 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. ClinVar contains an entry for this variant (Variation ID: 1432693). This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 799 of the PDGFRA protein (p.Thr799Ala).
Ambry Genetics RCV004042061 SCV005024403 uncertain significance Hereditary cancer-predisposing syndrome 2023-11-03 criteria provided, single submitter clinical testing The p.T799A variant (also known as c.2395A>G), located in coding exon 16 of the PDGFRA gene, results from an A to G substitution at nucleotide position 2395. The threonine at codon 799 is replaced by alanine, an amino acid with similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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