Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV001011227 | SCV001171525 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-19 | criteria provided, single submitter | clinical testing | The c.1376-4T>G intronic variant results from a T to G substitution 4 nucleotides upstream from coding exon 12 in the CHEK2 gene. This nucleotide position is well conserved in available vertebrate species. This alteration is predicted to decrease the efficiency of the native splice acceptor site by the BDGP and ESEfinder in silico models; however, experimental evidence is not currently available. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |
| Invitae | RCV001438351 | SCV001641223 | likely benign | Familial cancer of breast | 2020-03-05 | criteria provided, single submitter | clinical testing | |
| Color Diagnostics, |
RCV001011227 | SCV001734391 | uncertain significance | Hereditary cancer-predisposing syndrome | 2023-03-17 | criteria provided, single submitter | clinical testing | This variant causes a T to G nucleotide substitution at the -4 position of intron 12 of the CHEK2 gene. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with CHEK2-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance. |