Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000569863 | SCV000661745 | pathogenic | Hereditary cancer-predisposing syndrome | 2016-06-07 | criteria provided, single submitter | clinical testing | The c.1197dupT pathogenic mutation, located in coding exon 10 of the CHEK2 gene, results from a duplication of T at nucleotide position 1197, causing a translational frameshift with a predicted alternate stop codon (p.G400Wfs*6). 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. |
Myriad Genetics, |
RCV003335490 | SCV004045182 | pathogenic | Familial cancer of breast | 2023-06-28 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |