ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.2437C>G (p.Arg813Gly) (rs375968016)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000219439 SCV000274066 uncertain significance Hereditary cancer-predisposing syndrome 2015-03-09 criteria provided, single submitter clinical testing Insufficient or conflicting evidence
Genetic Services Laboratory, University of Chicago RCV000500295 SCV000596465 uncertain significance not specified 2016-06-23 criteria provided, single submitter clinical testing
Invitae RCV000558531 SCV000625616 uncertain significance Hereditary nonpolyposis colon cancer 2019-11-22 criteria provided, single submitter clinical testing This sequence change replaces arginine with glycine at codon 813 of the PMS2 protein (p.Arg813Gly). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and glycine. The frequency data for this variant in the population databases (ExAC) is considered unreliable due to the presence of homologous sequence, such as pseudogenes or paralogs, in the genome. This variant has not been reported in the literature in individuals with PMS2-related disease. ClinVar contains an entry for this variant (Variation ID: 230493). 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. 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.

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