ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.859G>A (p.Asp287Asn)

dbSNP: rs1553903251
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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 RCV000633806 SCV000755079 uncertain significance Gastrointestinal stromal tumor 2022-07-14 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. ClinVar contains an entry for this variant (Variation ID: 528584). 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 aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 287 of the PDGFRA protein (p.Asp287Asn).
Ambry Genetics RCV002448953 SCV002676282 uncertain significance Hereditary cancer-predisposing syndrome 2022-12-12 criteria provided, single submitter clinical testing The p.D287N variant (also known as c.859G>A), located in coding exon 5 of the PDGFRA gene, results from a G to A substitution at nucleotide position 859. The aspartic acid at codon 287 is replaced by asparagine, an amino acid with highly similar properties. This amino acid position is well conserved in available vertebrate species. 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.
GeneDx RCV004768487 SCV005378625 uncertain significance not provided 2023-11-21 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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