Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ambry Genetics | RCV000220749 | SCV000278214 | uncertain significance | Hereditary cancer-predisposing syndrome | 2017-11-01 | criteria provided, single submitter | clinical testing | Lines of evidence used in support of classification: Insufficient or conflicting evidence |
| Invitae | RCV000629831 | SCV000750787 | uncertain significance | Hereditary nonpolyposis colon cancer | 2017-09-25 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid with lysine at codon 13 of the MLH1 protein (p.Glu13Lys). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and lysine. This variant is present in population databases (rs587779008, ExAC 0.002%). This variant has not been reported in the literature in individuals with MLH1-related disease. ClinVar contains an entry for this variant (Variation ID: 192220). 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 C55"). 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. |
| Counsyl | RCV000662433 | SCV000784889 | uncertain significance | Lynch syndrome II | 2017-01-26 | criteria provided, single submitter | clinical testing | |
| Pathway Genomics | RCV000172808 | SCV000223774 | uncertain significance | Lynch syndrome I | 2014-10-30 | no assertion criteria provided | clinical testing |