ClinVar Miner

Submissions for variant NM_000179.2(MSH6):c.2419G>T (p.Glu807Ter) (rs587779923)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000688489 SCV000816103 pathogenic Hereditary nonpolyposis colon cancer 2018-04-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu807*) in the MSH6 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been reported in an individual in the InSiGHT variant database (PMID: 24362816). Loss-of-function variants in MSH6 are known to be pathogenic (PMID: 18269114, 24362816). For these reasons, this variant has been classified as Pathogenic.
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000601053 SCV000713261 pathogenic Lynch syndrome 2017-07-13 criteria provided, single submitter clinical testing The p.Glu807X variant in MSH6 has not been previously reported in individuals wi th Lynch syndrome and or in large population studies. This nonsense variant lead s to a premature termination codon at position 807, which is predicted to lead t o a truncated or absent protein. Heterozygous loss of function of the MSH6 gene is an established disease mechanism in Lynch syndrome. In summary, this variant meets criteria to be classified as pathogenic for Lynch syndrome in an autosomal dominant manner based upon predicted impact on the protein and absence from con trols.

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