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 2017-06-20 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000550333 SCV000625339 uncertain significance Hereditary nonpolyposis colon cancer 2017-03-27 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) and has not been reported in the literature in individuals with a MSH2-related disease. ClinVar contains an entry for this variant (Variation ID: 232807). Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C25"). In summary, this variant is a rare missense change with uncertain impact on protein function. 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 2018-06-20 criteria provided, single submitter clinical testing

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