ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2265A>C (p.Glu755Asp) (rs1553413644)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000563595 SCV000673939 uncertain significance Hereditary cancer-predisposing syndrome 2016-02-08 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000686396 SCV000813914 uncertain significance Hereditary nonpolyposis colon cancer 2018-01-11 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 755 of the MSH6 protein (p.Glu755Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with MSH6-related disease. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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