ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.530A>T (p.Gln177Leu) (rs1553411434)

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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 RCV000613418 SCV000731262 uncertain significance not specified 2016-11-17 criteria provided, single submitter clinical testing The p.Gln177Leu variant in MSH6 has not been previously reported in individuals with Lynch syndrome or in large population studies. Computational prediction too ls and conservation analysis suggest that the p.Gln177Leu variant may not impact the protein, though this information is not predictive enough to rule out patho genicity. In summary, the clinical significance of the p.Gln177Leu variant is un certain.

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