Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001066538 | SCV001231552 | pathogenic | Ataxia-telangiectasia syndrome | 2023-09-28 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr2129*) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 860262). For these reasons, this variant has been classified as Pathogenic. |