ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2318T>C (p.Leu773Pro) (rs863224623)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000197646 SCV000254295 uncertain significance Lynch syndrome 2015-02-07 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 773 of the MSH6 protein (p.Leu773Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies. 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 RCV001190573 SCV001358087 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-27 criteria provided, single submitter clinical testing

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