Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Color Diagnostics, |
RCV000774032 | SCV000907732 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-09-25 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001321885 | SCV001512736 | uncertain significance | Familial cancer of breast | 2021-10-18 | criteria provided, single submitter | clinical testing | 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). ClinVar contains an entry for this variant (Variation ID: 629330). This variant has not been reported in the literature in individuals affected with CHEK2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces serine with phenylalanine at codon 35 of the CHEK2 protein (p.Ser35Phe). The serine residue is moderately conserved and there is a large physicochemical difference between serine and phenylalanine. |