Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV000219106 | SCV000277289 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-04-03 | criteria provided, single submitter | clinical testing | Insufficient or conflicting evidence |
Invitae | RCV000475338 | SCV000548287 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2019-08-25 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with proline at codon 494 of the MSH2 protein (p.Ser494Pro). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and proline. This variant is present in population databases (rs55653533, ExAC 0.05%). This variant has been observed in an individual affected with suspected Lynch syndrome (PMID: 25980754). ClinVar contains an entry for this variant (Variation ID: 233001). 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
Color | RCV000219106 | SCV001344569 | uncertain significance | Hereditary cancer-predisposing syndrome | 2020-01-21 | criteria provided, single submitter | clinical testing |