Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000457961 | SCV000546799 | pathogenic | Ataxia-telangiectasia syndrome | 2023-12-06 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Asn1081Ilefs*27) 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: 407535). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV001019392 | SCV001180742 | pathogenic | Hereditary cancer-predisposing syndrome | 2019-09-24 | criteria provided, single submitter | clinical testing | The c.3242_3245delATCA pathogenic mutation, located in coding exon 21 of the ATM gene, results from a deletion of 4 nucleotides at nucleotide positions 3242 to 3245, causing a translational frameshift with a predicted alternate stop codon (p.N1081Ifs*27). 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. |
| Baylor Genetics | RCV003463881 | SCV004217149 | likely pathogenic | Familial cancer of breast | 2023-05-17 | criteria provided, single submitter | clinical testing | |
| Myriad Genetics, |
RCV003463881 | SCV004933752 | pathogenic | Familial cancer of breast | 2024-01-19 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |