Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001010690 | SCV001170923 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-05-16 | criteria provided, single submitter | clinical testing | The c.1274_1277delCAAG pathogenic mutation, located in coding exon 9 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 1274 to 1277, causing a translational frameshift with a predicted alternate stop codon (p.A425Vfs*11). 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. |
| Invitae | RCV001860649 | SCV002133220 | pathogenic | Ataxia-telangiectasia syndrome | 2022-06-19 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 818769). This variant has not been reported in the literature in individuals affected with ATM-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala425Valfs*11) in the ATM gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ATM are known to be pathogenic (PMID: 23807571, 25614872). |
| Baylor Genetics | RCV003467592 | SCV004212020 | likely pathogenic | Familial cancer of breast | 2023-04-13 | criteria provided, single submitter | clinical testing |