ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.3128A>G (p.Gln1043Arg)

dbSNP: rs1553907178
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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 RCV000633738 SCV000755011 uncertain significance Gastrointestinal stromal tumor 2022-12-20 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. ClinVar contains an entry for this variant (Variation ID: 528517). 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 glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1043 of the PDGFRA protein (p.Gln1043Arg).
Ambry Genetics RCV002325218 SCV002607684 uncertain significance Hereditary cancer-predisposing syndrome 2022-06-24 criteria provided, single submitter clinical testing The p.Q1043R variant (also known as c.3128A>G), located in coding exon 22 of the PDGFRA gene, results from an A to G substitution at nucleotide position 3128. The glutamine at codon 1043 is replaced by arginine, an amino acid with highly 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.
Baylor Genetics RCV003471981 SCV004200891 uncertain significance Polyps, multiple and recurrent inflammatory fibroid, gastrointestinal 2023-10-25 criteria provided, single submitter clinical testing

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