Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001370060 | SCV001566521 | uncertain significance | Hereditary nonpolyposis colorectal neoplasms | 2015-05-22 | criteria provided, single submitter | clinical testing | In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance. This variant has not been published in the literature and is not present in population databases. 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. This sequence change replaces threonine with serine at codon 576 of the PMS2 protein (p.Thr576Ser). The threonine residue is weakly conserved and there is a small physicochemical difference between threonine and serine. |