ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.3221T>C (p.Met1074Thr) (rs1060502927)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000462862 SCV000551217 uncertain significance Hereditary nonpolyposis colon cancer 2019-04-12 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 1074 of the MSH6 protein (p.Met1074Thr). The methionine residue is moderately conserved and there is a moderate physicochemical difference between methionine and threonine. 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 do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance.
Color RCV000775731 SCV000910155 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-20 criteria provided, single submitter clinical testing

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