Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000216433 | SCV000274589 | pathogenic | Hereditary cancer-predisposing syndrome | 2023-07-28 | criteria provided, single submitter | clinical testing | The c.977_978delTA pathogenic mutation, located in coding exon 7 of the ATM gene, results from a deletion of two nucleotides at nucleotide positions 977 to 978, causing a translational frameshift with a predicted alternate stop codon (p.I326Rfs*3). 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 | RCV000687281 | SCV000814840 | pathogenic | Ataxia-telangiectasia syndrome | 2023-10-18 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Ile326Argfs*3) 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). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with ATM-related conditions. ClinVar contains an entry for this variant (Variation ID: 230901). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003469019 | SCV004212052 | likely pathogenic | Familial cancer of breast | 2023-03-22 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV003469019 | SCV004932620 | pathogenic | Familial cancer of breast | 2024-01-11 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |