ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2018C>T (p.Pro673Leu) (rs864622085)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000204190 SCV000259297 uncertain significance Lynch syndrome 2015-07-06 criteria provided, single submitter clinical testing This sequence change replaces proline with leucine at codon 673 of the MSH6 protein (p.Pro673Leu). The proline residue is moderately conserved and there is a moderate physicochemical difference between proline 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 (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.
Ambry Genetics RCV000569723 SCV000662489 uncertain significance Hereditary cancer-predisposing syndrome 2016-07-07 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence

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