ClinVar Miner

Submissions for variant NM_000535.7(PMS2):c.1204C>A (p.Gln402Lys) (rs587782789)

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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 RCV000132338 SCV000187427 uncertain significance Hereditary cancer-predisposing syndrome 2015-06-07 criteria provided, single submitter clinical testing Insufficient or Conflicting Evidence;Rarity in general population databases (dbSNP, ESP, 1000 Genomes);in silico models in agreement (benign)
Invitae RCV000687885 SCV000815476 uncertain significance Hereditary nonpolyposis colon cancer 2019-02-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine with lysine at codon 402 of the PMS2 protein (p.Gln402Lys). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and lysine. 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. ClinVar contains an entry for this variant (Variation ID: 142879). 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 and their clinical significance is uncertain. 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.
Color RCV000132338 SCV001353138 uncertain significance Hereditary cancer-predisposing syndrome 2020-02-09 criteria provided, single submitter clinical testing

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