Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000567509 | SCV000673868 | uncertain significance | Hereditary cancer-predisposing syndrome | 2016-07-08 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient or conflicting evidence |
Color | RCV000567509 | SCV000689981 | uncertain significance | Hereditary cancer-predisposing syndrome | 2018-10-21 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000685208 | SCV000812681 | uncertain significance | Hereditary nonpolyposis colon cancer | 2018-10-03 | criteria provided, single submitter | clinical testing | This sequence change replaces methionine with threonine at codon 460 of the MSH2 protein (p.Met460Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual in the Leiden Open-source Variation Database (PMID: 21520333). ClinVar contains an entry for this variant (Variation ID: 485825). 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, 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. |
Quest Diagnostics Nichols Institute San Juan Capistrano | RCV000759100 | SCV000888205 | uncertain significance | not provided | 2018-02-08 | criteria provided, single submitter | clinical testing |