Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001964455 | SCV002251694 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2021-08-03 | criteria provided, single submitter | clinical testing | 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. 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 disruptive. This variant has not been reported in the literature in individuals affected with PMS2-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with serine at codon 115 of the PMS2 protein (p.Cys115Ser). The cysteine residue is highly conserved and there is a moderate physicochemical difference between cysteine and serine. |
All of Us Research Program, |
RCV004011020 | SCV004826256 | uncertain significance | Lynch syndrome | 2023-05-31 | criteria provided, single submitter | clinical testing |