Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV001024764 | SCV001186843 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-10-30 | criteria provided, single submitter | clinical testing | The c.5991delT pathogenic mutation, located in coding exon 39 of the ATM gene, results from a deletion of one nucleotide at nucleotide position 5991, causing a translational frameshift with a predicted alternate stop codon (p.G1998Efs*2). 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. |
Color Diagnostics, |
RCV001024764 | SCV001356616 | pathogenic | Hereditary cancer-predisposing syndrome | 2020-04-06 | criteria provided, single submitter | clinical testing | This variant deletes 1 nucleotide in exon 40 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. To our knowledge, this variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified 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, |
RCV003336263 | SCV004043946 | pathogenic | Familial cancer of breast | 2023-06-27 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |