ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3272T>G (p.Leu1091Arg) (rs864622637)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206624 SCV000261486 uncertain significance Lynch syndrome 2015-10-21 criteria provided, single submitter clinical testing This sequence change replaces leucine with arginine at codon 1091 of the MSH6 protein (p.Leu1091Arg). The leucine residue is moderately conserved and there is a moderate physicochemical difference between leucine and arginine. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature. 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 RCV001019563 SCV001180938 uncertain significance Hereditary cancer-predisposing syndrome 2018-01-18 criteria provided, single submitter clinical testing Insufficient evidence

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