ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2235T>G (p.Ile745Met) (rs556339046)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000473197 SCV000551084 uncertain significance Hereditary nonpolyposis colon cancer 2018-05-29 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with methionine at codon 745 of the MSH6 protein (p.Ile745Met). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and methionine. This variant is present in population databases (rs556339046, ExAC 0.02%). This variant has not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 410415). 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: "Possibly 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.
Counsyl RCV000663137 SCV000786281 uncertain significance Hereditary nonpolyposis colorectal cancer type 5 2018-04-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV001014897 SCV001175666 uncertain significance Hereditary cancer-predisposing syndrome 2019-08-08 criteria provided, single submitter clinical testing Insufficient evidence
Color RCV001014897 SCV001358084 uncertain significance Hereditary cancer-predisposing syndrome 2018-12-06 criteria provided, single submitter clinical testing

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