Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV001564543 | SCV001787726 | likely pathogenic | not provided | 2021-11-01 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in a null allele in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (Lek 2016); Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 29665859) |
| Labcorp Genetics |
RCV002570751 | SCV003460453 | likely pathogenic | Ataxia-telangiectasia syndrome | 2022-11-02 | criteria provided, single submitter | clinical testing | This sequence change affects a donor splice site in intron 21 of the ATM gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 1199759). Disruption of this splice site has been observed in individual(s) with breast cancer (PMID: 29665859). This variant is not present in population databases (gnomAD no frequency). |
| Baylor Genetics | RCV003470865 | SCV004209439 | likely pathogenic | Familial cancer of breast | 2023-09-15 | criteria provided, single submitter | clinical testing |