Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001018841 | SCV001180125 | likely pathogenic | Hereditary cancer-predisposing syndrome | 2022-08-04 | criteria provided, single submitter | clinical testing | The c.3154-1G>T intronic variant results from a G to T substitution one nucleotide upstream from coding exon 21 of the ATM gene. This variant is considered to be rare based on population cohorts in the Genome Aggregation Database (gnomAD). This nucleotide position is highly conserved in available vertebrate species. In silico splice site analysis predicts that this alteration will weaken the native splice acceptor site and will result in the creation or strengthening of a novel splice acceptor site. Alterations that disrupt the canonical splice site are expected to cause aberrant splicing, resulting in an abnormal protein or a transcript that is subject to nonsense-mediated mRNA decay. RNA studies have demonstrated that this alteration results in abnormal splicing in the set of samples tested (Ambry internal data). As such, this alteration is classified as likely pathogenic. |
| Myriad Genetics, |
RCV003455103 | SCV004189623 | likely pathogenic | Familial cancer of breast | 2023-10-11 | 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. |
| Baylor Genetics | RCV003455103 | SCV004216212 | likely pathogenic | Familial cancer of breast | 2021-09-17 | criteria provided, single submitter | clinical testing |