Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000463661 | SCV000548148 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2019-03-06 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamine with lysine at codon 910 of the MSH2 protein (p.Gln910Lys). The glutamine residue is moderately conserved and there is a small physicochemical difference between glutamine and lysine. This variant is present in population databases (rs775130557, ExAC 0.005%). This variant has been reported in individuals affected with breast and ovarian cancer (PMID: 26976419, 23047549). ClinVar contains an entry for this variant (Variation ID: 408463). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 | RCV000771514 | SCV000904010 | uncertain significance | Hereditary cancer-predisposing syndrome | 2019-01-17 | criteria provided, single submitter | clinical testing |