ClinVar Miner

Submissions for variant NM_006206.6(PDGFRA):c.1238-4G>A

dbSNP: rs561842533
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001010489 SCV001170696 uncertain significance Hereditary cancer-predisposing syndrome 2019-10-17 criteria provided, single submitter clinical testing The c.1238-4G>A intronic variant results from a G to A substitution 4 nucleotides upstream from coding exon 8 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV003526026 SCV004266428 likely benign Gastrointestinal stromal tumor 2022-12-09 criteria provided, single submitter clinical testing

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