Total submissions: 3
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, |
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. |