Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000240238 | SCV000299154 | pathogenic | Ataxia-telangiectasia syndrome | 2016-03-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 19-27 of the ATM gene. This creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. While this particular variant has not been reported in the literature, truncating variants in ATM are known to be pathogenic (PMID: 10817650, 19781682). For these reasons, this variant has been classified as Pathogenic. |