ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1892-5A>G

gnomAD frequency: 0.00001  dbSNP: rs766574854
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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 RCV000547294 SCV000630583 likely benign Gastrointestinal stromal tumor 2024-01-07 criteria provided, single submitter clinical testing
Ambry Genetics RCV001013590 SCV001174198 uncertain significance Hereditary cancer-predisposing syndrome 2024-03-07 criteria provided, single submitter clinical testing The c.1892-5A>G intronic variant results from an A to G substitution 5 nucleotides upstream from coding exon 13 in the PDGFRA gene. This nucleotide position is not well conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will not have any significant effect on splicing. Based on the available evidence, the clinical significance of this alteration remains unclear.

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