Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001982166 | SCV002210522 | pathogenic | Ataxia-telangiectasia syndrome | 2020-11-01 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Ile2401Metfs*5) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). |
Fulgent Genetics, |
RCV002479492 | SCV002800141 | likely pathogenic | Familial cancer of breast; Ataxia-telangiectasia syndrome | 2022-04-06 | criteria provided, single submitter | clinical testing |