ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.2533A>G (p.Lys845Glu) (rs63750571)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000215108 SCV000276369 uncertain significance Hereditary cancer-predisposing syndrome 2017-05-10 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000524393 SCV000548259 uncertain significance Hereditary nonpolyposis colon cancer 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces lysine with glutamic acid at codon 845 of the MSH2 protein (p.Lys845Glu). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and glutamic acid. This variant is present in population databases (rs63750571, ExAC 0.01%). This variant has been reported in an individual affected with colorectal cancer (PMID: 10777691). ClinVar contains an entry for this variant (Variation ID: 90995). An experimental study has shown that this missense change leads to decreased MSH2 mismatch repair activity (PMID: 17720936). 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 RCV000215108 SCV000685051 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-21 criteria provided, single submitter clinical testing
Counsyl RCV000662762 SCV000785556 uncertain significance Lynch syndrome I 2017-09-15 criteria provided, single submitter clinical testing
Mendelics RCV000076497 SCV000837856 uncertain significance Lynch syndrome 2018-07-02 criteria provided, single submitter clinical testing
Mendelics RCV000662762 SCV001135762 uncertain significance Lynch syndrome I 2019-05-28 criteria provided, single submitter clinical testing

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