ClinVar Miner

Submissions for variant NM_000051.4(ATM):c.8787-1G>C

dbSNP: rs1591313869
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001018317 SCV001179540 pathogenic Hereditary cancer-predisposing syndrome 2020-05-29 criteria provided, single submitter clinical testing The c.8787-1G>C intronic pathogenic mutation results from a G to C substitution one nucleotide upstream from coding exon 60 of the ATM gene. Using the BDGP and ESEfinder splice site prediction tools, this alteration is predicted to abolish the native splice acceptor site. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). Based on the supporting evidence, this alteration is interpreted as a disease-causing mutation.
Baylor Genetics RCV003461369 SCV004216226 pathogenic Familial cancer of breast 2021-07-11 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV003461369 SCV004930590 likely pathogenic Familial cancer of breast 2024-02-05 criteria provided, single submitter clinical testing This variant is considered likely pathogenic. This variant occurs within a consensus splice junction and is predicted to result in abnormal mRNA splicing of either an out-of-frame exon or an in-frame exon necessary for protein stability and/or normal function.

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