ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.895A>G (p.Lys299Glu) (rs1553412326)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000603999 SCV000712777 uncertain significance not specified 2017-01-11 criteria provided, single submitter clinical testing The p.Lys299Glu variant in MSH6 has not been previously reported in individuals with Lynch syndrome and was absent from large population studies. Computational prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of the p .Lys299Glu variant is uncertain.

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