ClinVar Miner

Submissions for variant NM_000179.3(MSH6):c.2534_2538del (p.Met844_Tyr845insTer)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Myriad Genetics, Inc. RCV003450403 SCV004187355 pathogenic Lynch syndrome 5 2023-08-17 criteria provided, single submitter clinical testing This variant is considered pathogenic. This variant creates a termination codon and is predicted to result in premature protein truncation.
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV004017990 SCV004847758 likely pathogenic Lynch syndrome 2019-05-08 criteria provided, single submitter clinical testing The p.Tyr845X variant in MSH6 has not been previously reported in individuals with Lynch Syndrome and was absent from large population studies. This nonsense variant leads to a premature termination codon at position 845, which is predicted to lead to a truncated or absent protein. Heterozygous loss of function of the MSH6 gene is an established disease mechanism in individuals with Lynch syndrome. In summary, this variant meets criteria to be classified as likely pathogenic for autosomal dominant Lynch syndrome. ACMG/AMP criteria applied: PVS1, PM2.

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