ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.521G>A (p.Arg174Lys) (rs863224629)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200532 SCV000254328 uncertain significance Lynch syndrome 2015-06-01 criteria provided, single submitter clinical testing This sequence change replaces arginine with lysine at codon 174 of the MSH6 protein (p.Arg174Lys). The arginine residue is weakly conserved and there is a small physicochemical difference between arginine and lysine. 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 tolerated, but these predictions have not been confirmed by published functional studies. In summary, this is a novel missense change that is not predicted to affect protein function or cause disease. However, the evidence is insufficient at this time to prove that conclusively. It has been classified as a Variant of Uncertain Significance.
Counsyl RCV000409062 SCV000489194 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2016-08-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491997 SCV000580347 uncertain significance Hereditary cancer-predisposing syndrome 2012-08-01 criteria provided, single submitter clinical testing
Color RCV000491997 SCV000905483 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-16 criteria provided, single submitter clinical testing

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