ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3014G>A (p.Arg1005Gln) (rs587782324)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131231 SCV000186186 uncertain significance Hereditary cancer-predisposing syndrome 2019-04-04 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV000131231 SCV000690308 uncertain significance Hereditary cancer-predisposing syndrome 2019-02-19 criteria provided, single submitter clinical testing
Fulgent Genetics,Fulgent Genetics RCV000764426 SCV000895483 uncertain significance Endometrial carcinoma; Turcot syndrome; Hereditary nonpolyposis colorectal cancer type 5 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV001060704 SCV001225408 uncertain significance Hereditary nonpolyposis colon cancer 2019-09-10 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 1005 of the MSH6 protein (p.Arg1005Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is present in population databases (rs587782324, ExAC 0.01%). This variant has been reported in an individual affected with colorectal cancer in the Universal Mutation Database (PMID: 10612827). ClinVar contains an entry for this variant (Variation ID: 142232). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or 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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