ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2518A>C (p.Ser840Arg) (rs863224624)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197875 SCV000254298 uncertain significance Lynch syndrome 2015-06-13 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 840 of the MSH6 protein (p.Ser840Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant has not been published in the literature and is not present in population databases. 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 C15"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000491269 SCV000580354 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Counsyl RCV000663287 SCV000786529 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2018-05-25 criteria provided, single submitter clinical testing

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