Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001201475 | SCV001372544 | pathogenic | Ataxia-telangiectasia syndrome | 2021-10-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 933295). This premature translational stop signal has been observed in individual(s) with ataxia-telangiectasia (PMID: 29492593). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Tyr705*) 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). |
Myriad Genetics, |
RCV004033498 | SCV004933143 | pathogenic | Familial cancer of breast | 2024-01-17 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation. |