ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3364C>G (p.Gln1122Glu) (rs1060502892)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000467819 SCV000551089 uncertain significance Hereditary nonpolyposis colorectal neoplasms 2018-12-13 criteria provided, single submitter clinical testing This sequence change replaces glutamine with glutamic acid at codon 1122 of the MSH6 protein (p.Gln1122Glu). The glutamine residue is weakly conserved and there is a small physicochemical difference between glutamine and glutamic acid. This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a MSH6-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: (SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). The glutamic acid amino acid residue is also found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies. In summary, this variant is a novel missense change that is not predicted to affect protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.
Counsyl RCV000662840 SCV000785699 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2017-11-03 criteria provided, single submitter clinical testing
Color Health, Inc RCV000773186 SCV000906752 uncertain significance Hereditary cancer-predisposing syndrome 2020-01-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV000773186 SCV001181532 likely benign Hereditary cancer-predisposing syndrome 2019-02-25 criteria provided, single submitter clinical testing In silico models in agreement (benign);Other strong data supporting benign classification

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