Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000628327 | SCV000749223 | pathogenic | Ataxia-telangiectasia syndrome | 2020-05-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing part of exon 56 of the ATM gene, including the exon 56-intron 56 boundary (c.8218_8269-2882del). This likely creates a premature translational stop signal and is expected to result in an absent or disrupted protein product. This variant has not been reported in the literature in individuals with ATM-related disease. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). For these reasons, this variant has been classified as Pathogenic. |