Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000222393 | SCV000277047 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-06-20 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient evidence |
Invitae | RCV000550333 | SCV000625339 | uncertain significance | Hereditary nonpolyposis colon cancer | 2017-03-27 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine with lysine at codon 67 of the MSH2 protein (p.Met67Lys). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine and lysine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 232807). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, this variant is a rare missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. |
Counsyl | RCV000662879 | SCV000785781 | uncertain significance | Lynch syndrome I | 2017-11-27 | criteria provided, single submitter | clinical testing | |
Color | RCV000222393 | SCV000904873 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-06-20 | criteria provided, single submitter | clinical testing |