ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.2517G>A (p.Leu839=)

dbSNP: rs1213039385
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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 RCV002022532 SCV002295897 uncertain significance Gastrointestinal stromal tumor 2021-07-01 criteria provided, single submitter clinical testing This variant is not present in population databases (ExAC no frequency). 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. This variant has not been reported in the literature in individuals affected with PDGFRA-related conditions. This sequence change affects codon 839 of the PDGFRA mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the PDGFRA protein.
Ambry Genetics RCV002425399 SCV002741631 likely benign Hereditary cancer-predisposing syndrome 2022-08-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.

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