ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.368-4A>G

gnomAD frequency: 0.00001  dbSNP: rs944515268
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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 RCV000633907 SCV000755180 likely benign Gastrointestinal stromal tumor 2024-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV001020874 SCV001182413 uncertain significance Hereditary cancer-predisposing syndrome 2019-12-20 criteria provided, single submitter clinical testing The c.368-4A>G intronic variant results from an A to G substitution 4 nucleotides upstream from coding exon 3 in the PDGFRA gene. This nucleotide position is not well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is not predicted to have any significant effect on this splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Genetic Services Laboratory, University of Chicago RCV003151115 SCV003839822 likely benign not specified 2022-07-27 no assertion criteria provided clinical testing

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