ClinVar Miner

Submissions for variant NM_000251.2(MSH2):c.200T>A (p.Met67Lys) (rs876660001)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000222393 SCV000277047 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing Insufficient evidence
Invitae RCV000550333 SCV000625339 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2019-10-09 criteria provided, single submitter clinical testing This sequence change replaces methionine with lysine at codon 67 of the MSH2 protein (p.Met67Lys). The methionine residue is weakly conserved and there is a moderate physicochemical difference between methionine 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 MSH2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). 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.
Counsyl RCV000662879 SCV000785781 uncertain significance Lynch syndrome I 2017-11-27 criteria provided, single submitter clinical testing
Color RCV000222393 SCV000904873 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-28 criteria provided, single submitter clinical testing

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