ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.16A>C (p.Thr6Pro) (rs200944853)

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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 RCV000490967 SCV000580276 uncertain significance Hereditary cancer-predisposing syndrome 2016-05-13 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000549468 SCV000624680 uncertain significance Hereditary nonpolyposis colon cancer 2018-09-03 criteria provided, single submitter clinical testing This sequence change replaces threonine with proline at codon 6 of the MSH6 protein (p.Thr6Pro). The threonine residue is highly conserved and there is a small physicochemical difference between threonine and proline. This variant is present in population databases (rs200944853, ExAC 0.01%). This variant has been reported in an individual in the Universal Mutation Database (PMID: 10612827). ClinVar contains an entry for this variant (Variation ID: 428380). 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: "Probably Damaging"; Align-GVGD: "Class C0"). 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.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000759128 SCV000888248 uncertain significance not provided 2018-01-16 criteria provided, single submitter clinical testing

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