Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000823859 | SCV000964730 | pathogenic | Ataxia-telangiectasia syndrome | 2022-05-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1084*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 665551). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). |
Myriad Genetics, |
RCV004029164 | SCV004933515 | pathogenic | Familial cancer of breast | 2024-01-19 | 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. |
CZECANCA consortium | RCV003128162 | SCV003804341 | pathogenic | Endometrial carcinoma | 2023-02-21 | no assertion criteria provided | clinical testing |