ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.904A>G (p.Met302Val)

dbSNP: rs1060501512
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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 RCV000465542 SCV000546617 uncertain significance Gastrointestinal stromal tumor 2022-05-07 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: 407419). 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 methionine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 302 of the PDGFRA protein (p.Met302Val).
Ambry Genetics RCV004022637 SCV005024417 uncertain significance Hereditary cancer-predisposing syndrome 2024-02-25 criteria provided, single submitter clinical testing The p.M302V variant (also known as c.904A>G), located in coding exon 5 of the PDGFRA gene, results from an A to G substitution at nucleotide position 904. The methionine at codon 302 is replaced by valine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Based on the available evidence, the clinical significance of this alteration remains unclear.

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