Submissions for variant NM_000535.7(PMS2):c.713G>A (p.Ser238Asn) (rs1060503111)

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Total submissions: 4

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Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000470673	SCV000551928	uncertain significance	Hereditary nonpolyposis colorectal neoplasms	2019-04-23	criteria provided, single submitter	clinical testing	This sequence change replaces serine with asparagine at codon 238 of the PMS2 protein (p.Ser238Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. 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. 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. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics	RCV000569996	SCV000664904	uncertain significance	Hereditary cancer-predisposing syndrome	2016-04-07	criteria provided, single submitter	clinical testing	Insufficient or conflicting evidence
Color	RCV000569996	SCV000910191	uncertain significance	Hereditary cancer-predisposing syndrome	2018-11-19	criteria provided, single submitter	clinical testing
Mendelics	RCV000987844	SCV001137316	likely benign	Hereditary nonpolyposis colorectal cancer type 4	2019-05-28	criteria provided, single submitter	clinical testing

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