Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV000812025 | SCV000952323 | pathogenic | Familial cancer of breast | 2022-03-19 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Val150Glyfs*11) in the CHEK2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in CHEK2 are known to be pathogenic (PMID: 21876083, 24713400). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 655775). For these reasons, this variant has been classified as Pathogenic. |
| Ambry Genetics | RCV001022581 | SCV001184335 | pathogenic | Hereditary cancer-predisposing syndrome | 2018-08-30 | criteria provided, single submitter | clinical testing | The c.449delT pathogenic mutation, located in coding exon 3 of the CHEK2 gene, results from a deletion of one nucleotide at nucleotide position 449, causing a translational frameshift with a predicted alternate stop codon (p.V150Gfs*11). 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, |
RCV000812025 | SCV004042890 | pathogenic | Familial cancer of breast | 2023-06-23 | criteria provided, single submitter | clinical testing | This variant is considered pathogenic. This variant creates a frameshift predicted to result in premature protein truncation. |
| Baylor Genetics | RCV000812025 | SCV004217646 | likely pathogenic | Familial cancer of breast | 2023-06-28 | criteria provided, single submitter | clinical testing |