ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2720A>G (p.Asn907Ser)

dbSNP: rs1560491697
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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 RCV000688106 SCV000815706 uncertain significance Gastrointestinal stromal tumor 2022-02-19 criteria provided, single submitter clinical testing 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 asparagine, which is neutral and polar, with serine, which is neutral and polar, at codon 907 of the PDGFRA protein (p.Asn907Ser). ClinVar contains an entry for this variant (Variation ID: 567903). 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").
Ambry Genetics RCV002424596 SCV002741454 uncertain significance Hereditary cancer-predisposing syndrome 2024-11-02 criteria provided, single submitter clinical testing The p.N907S variant (also known as c.2720A>G), located in coding exon 19 of the PDGFRA gene, results from an A to G substitution at nucleotide position 2720. The asparagine at codon 907 is replaced by serine, 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.

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