Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000228621 | SCV000283093 | pathogenic | Ataxia-telangiectasia syndrome | 2016-03-03 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 62-63 of the ATM gene, and is predicted to eliminate the final 106 amino acids of the protein (p.Val2951_Val3056del). The 5' boundary is likely confined to the intronic region between exons 61 and 62. The 3' end of this event is unknown as it extends through the termination codon beyond the assayed region for this gene and may encompass additional genes. While this deletion is not anticipated to result in nonsense mediated decay, it is expected to create a truncated ATM protein. A deletion encompassing exons 62-63 and the 3' UTR of ATM is reported as pathogenic and causative for autosomal recessive ataxia-telangiectasia (PMID: 9443866). In addition, multiple missense changes in these last two exons (PMID: 9872980, 12552566, 19781682), and a heterozygous deletion encompassing exon 63 (PMID: 23807571), have been reported as pathogenic. For these reasons, this deletion has been classified as Pathogenic. |