Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000458922 | SCV000563870 | likely pathogenic | Ataxia-telangiectasia syndrome | 2016-11-15 | criteria provided, single submitter | clinical testing | This variant is a gross deletion of the genomic region encompassing exons 30-34 of the ATM gene. This leads to an in-frame deletion, preserving the integrity of the reading frame. This deletion has been observed on the opposite chromosome (in trans) from a pathogenic variant in an individual affected with ataxia-telangiectasia (PMID: 16941484). This finding is consistent with autosomal recessive inheritance and suggests that this variant contributes to disease. This variant is also known as a deletion of exons 32-36 in the literature. This variant is expected to result in the in-frame deletion of 247 amino acids in the ATM protein (p.Arg1479_Cys1726delinsSer). While this is not anticipated to result in nonsense mediated decay, it likely disrupts the structure and/or function of the ATM protein. In summary, this variant is a rare in-frame deletion that has been reported in an affected individual. This evidence indicates that the variant is pathogenic, but additional data is needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |