Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000687235 | SCV000814791 | uncertain significance | Familial cancer of breast | 2018-04-24 | criteria provided, single submitter | clinical testing | This variant results in in-frame substitution of two amino acid residues at codons 276 and 277 of the CHEK2 protein (p.Ile276_Leu277delinsMet), but otherwise preserves the integrity of the reading frame. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with CHEK2-related disease. Experimental studies and prediction algorithms are not available for this variant, and the functional significance of the deleted amino acids is currently unknown. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |