Submissions for variant NM_000535.7(PMS2):c.895C>A (p.Pro299Thr) (rs1562663421)

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Total submissions: 2

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000701484	SCV000830286	uncertain significance	Hereditary nonpolyposis colon cancer	2018-04-16	criteria provided, single submitter	clinical testing	This sequence change replaces proline with threonine at codon 299 of the PMS2 protein (p.Pro299Thr). The proline residue is moderately conserved and there is a small physicochemical difference between proline and threonine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with PMS2-related disease. 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: "Probably 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.
Ambry Genetics	RCV001018544	SCV001179796	uncertain significance	Hereditary cancer-predisposing syndrome	2019-05-23	criteria provided, single submitter	clinical testing	Insufficient evidence

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