ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1755A>G (p.Arg585=)

gnomAD frequency: 0.00001  dbSNP: rs1321255366
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001337550 SCV001531156 uncertain significance Gastrointestinal stromal tumor 2023-07-24 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 sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 1034780). 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 affects codon 585 of the PDGFRA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PDGFRA protein.

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