Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001214829 | SCV001386534 | pathogenic | Ataxia-telangiectasia syndrome | 2019-07-11 | criteria provided, single submitter | clinical testing | This sequence change results in a premature translational stop signal in the ATM gene (p.Gln3031Lysfs*2). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 26 amino acids of the ATM protein. For these reasons, this variant has been classified as Pathogenic. This variant disrupts the C-terminus of the ATM protein. Other variant(s) that disrupt this region (p.Arg3047*) have been determined to be pathogenic (PMID: 8755918, 19691550, 18560558, 10980530, 26628246). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. This variant has not been reported in the literature in individuals with ATM-related conditions. This variant is not present in population databases (ExAC no frequency). |
| Ambry Genetics | RCV002375179 | SCV002684696 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-01-23 | criteria provided, single submitter | clinical testing | The c.9091delC pathogenic mutation, located in coding exon 62 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 9091, causing a translational frameshift with a predicted alternate stop codon (p.Q3031Kfs*2). This alteration is expected to result in loss of function by premature protein truncation. As such, this alteration is interpreted as a disease-causing mutation. |