Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV002239652 | SCV002509397 | pathogenic | Ataxia-telangiectasia-like disorder | 2022-05-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln630*) in the MRE11 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in MRE11 are known to be pathogenic (PMID: 23080121, 23912341). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with MRE11-related conditions. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003464408 | SCV004193894 | likely pathogenic | Ataxia-telangiectasia-like disorder 1 | 2022-02-23 | criteria provided, single submitter | clinical testing |