ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2479G>A (p.Ala827Thr)

dbSNP: rs1560489433
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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 RCV002046925 SCV002110874 uncertain significance Gastrointestinal stromal tumor 2022-10-17 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1349402). 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. 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 alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 827 of the PDGFRA protein (p.Ala827Thr).
Ambry Genetics RCV002449457 SCV002734641 uncertain significance Hereditary cancer-predisposing syndrome 2022-05-22 criteria provided, single submitter clinical testing The p.A827T variant (also known as c.2479G>A), located in coding exon 17 of the PDGFRA gene, results from a G to A substitution at nucleotide position 2479. The alanine at codon 827 is replaced by threonine, 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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