ClinVar Miner

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 colon cancer 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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