Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001054612 | SCV001218957 | pathogenic | Ataxia-telangiectasia syndrome | 2021-10-25 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr889*) in the ATM gene. It is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ATM-related conditions. For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). |
Baylor Genetics | RCV003462563 | SCV004215528 | likely pathogenic | Familial cancer of breast | 2023-05-18 | criteria provided, single submitter | clinical testing |