ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2990A>G (p.Lys997Arg) (rs587780674)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000122959 SCV000166223 uncertain significance Hereditary nonpolyposis colon cancer 2017-06-05 criteria provided, single submitter clinical testing This sequence change replaces lysine with arginine at codon 997 of the MSH6 protein (p.Lys997Arg). The lysine residue is moderately conserved and there is a small physicochemical difference between lysine and arginine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with a MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 135837). 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: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant has uncertain impact on MSH6 function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV000491404 SCV000580340 uncertain significance Hereditary cancer-predisposing syndrome 2016-04-18 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence

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