Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000531256 | SCV000625630 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2017-03-26 | criteria provided, single submitter | clinical testing | This sequence change replaces serine with tyrosine at codon 90 of the PMS2 protein (p.Ser90Tyr). The serine residue is highly conserved and there is a large physicochemical difference between serine and tyrosine. In summary, this variant is a novel missense change with uncertain impact on protein function. 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, but these predictions have not been confirmed by published functional studies. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a PMS2-related disease. |