ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.1678T>C (p.Phe560Leu) (rs863224617)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196244 SCV000254277 uncertain significance Lynch syndrome 2015-02-13 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 560 of the MSH6 protein (p.Phe560Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. 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: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV001181720 SCV001346922 uncertain significance Hereditary cancer-predisposing syndrome 2019-03-26 criteria provided, single submitter clinical testing

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