Total submissions: 1
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001379789 | SCV001577655 | likely pathogenic | Ataxia-telangiectasia syndrome | 2023-07-18 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. While this variant is not anticipated to result in nonsense mediated decay, it is expected to delete 55 amino acids from the ATM protein (p.Arg111_Glu166delinsLys). An experimental study has shown that the deletion of amino acid residues 110-130 disrupts the interaction between the ATM and TP53 proteins, and the ability of ATM to rescue the hypersensitivity to ionizing radiation in ATM-deficient cells (PMID: 15713674). Algorithms developed to predict the effect of variants on protein structure and function are not available or were not evaluated for this variant. This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is a gross deletion of the genomic region encompassing exon(s) 5 of the ATM gene. This variant would be expected to be in-frame, preserving the integrity of the reading frame. |