Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV003585839 | SCV004362444 | pathogenic | Hereditary cancer-predisposing syndrome | 2022-08-01 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 24 of the ATM gene, creating a frameshift and premature translation stop signal. This variant is expected to result in an absent or non-functional protein product. This variant has been reported in an individual affected with early onset breast cancer in the literature (PMID: 34917121). This variant has been identified in 1/251348 chromosomes in the general population by the Genome Aggregation Database (gnomAD). Loss of ATM function is a known mechanism of disease (clinicalgenome.org). Based on the available evidence, this variant is classified as Pathogenic. |
Myriad Genetics, |
RCV004371478 | SCV004931738 | pathogenic | Familial cancer of breast | 2024-01-22 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |