Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001245506 | SCV001418798 | pathogenic | Ataxia-telangiectasia syndrome | 2019-05-15 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). This variant has not been reported in the literature in individuals with ATM-related conditions. This sequence change creates a premature translational stop signal (p.Ser475Aspfs*8) in the ATM gene. It is expected to result in an absent or disrupted protein product. |
| Ambry Genetics | RCV002393651 | SCV002696614 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-01-14 | criteria provided, single submitter | clinical testing | The c.1420_1423delAGCTinsTCTGAC pathogenic mutation, located in coding exon 9 of the ATM gene, results from the deletion of 4 nucleotides and insertion of 6 nucleotides causing a translational frameshift with a predicted alternate stop codon (p.S475Dfs*8). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation. |