Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001035602 | SCV001198936 | pathogenic | Ataxia-telangiectasia syndrome | 2022-03-09 | 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: 834837). This variant is also known as c.8436delT (p.Ser2812fs). This premature translational stop signal has been observed in individual(s) with malignant pleural mesothelioma (PMID: 28687356). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe2813Leufs*44) 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). |