ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.527T>C (p.Met176Thr) (rs1553411432)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000506240 SCV000601610 uncertain significance not specified 2017-03-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV000561763 SCV000662485 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-22 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Invitae RCV000820783 SCV000961510 uncertain significance Hereditary nonpolyposis colon cancer 2018-10-04 criteria provided, single submitter clinical testing This sequence change replaces methionine with threonine at codon 176 of the MSH6 protein (p.Met176Thr). 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). This variant has not been reported in the literature in individuals with MSH6-related disease. ClinVar contains an entry for this variant (Variation ID: 439216). 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: "Tolerated"; 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.

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