ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.1232-5T>C

gnomAD frequency: 0.00001  dbSNP: rs1355467895
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000972048 SCV001119738 likely benign Gastrointestinal stromal tumor 2023-09-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV001010463 SCV001170665 uncertain significance Hereditary cancer-predisposing syndrome 2019-01-29 criteria provided, single submitter clinical testing The c.1232-5T>C intronic variant results from a T to C substitution 5 nucleotides upstream from coding exon 8 in the KIT gene. This nucleotide position is well conserved in available vertebrate species. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to slightly weaken the efficiency of the native splice acceptor site; however, direct evidence is unavailable. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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