Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000708255 | SCV000837365 | pathogenic | Ataxia-telangiectasia syndrome | 2022-10-23 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exon(s) 8 of the ATM gene. This deletion is out-of-frame, and is expected to create a premature termination codon and result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). A similar copy number variant has been observed in individual(s) with early-onset colorectal cancer (PMID: 27978560). For these reasons, this variant has been classified as Pathogenic. |